| Benign | Pathogenic | |||||
| Strong (BS) | Supporting (BP) | Supporting (PP) | Moderate (PM) | Strong (PS) | Very Strong (PVS) | |
| Pathogenic |
(i) 1 Very strong (PVS1) AND | |
| (a) ≥1 Strong (PS1-PS4) OR | ||
| (b) ≥2 Moderate (PM1-PM6) OR | ||
| (c) 1 Moderate (PM1-PM6) and 1 supporting (PP1-PP5) OR | ||
| (d) ≥2 Supporting (PP1-PP5) | ||
| (ii) ≥2 Strong (PS1-PS4) OR | ||
| (iii) 1 Strong (PS1-PS4) AND | ||
| (a) ≥3 Moderate (PM1-PM6) OR | ||
| (b) 2 Moderate (PM1-PM6) AND ≥2 Supporting (PP1-PP5) OR | ||
| (c) 1 Moderate (PM1-PM6) AND ≥4 supporting (PP1-PP5) | ||
| Likely pathogenic |
(i) 1 Very strong (PVS1) AND 1 moderate (PM1-PM6) OR | |
| (ii) 1 Strong (PS1-PS4) AND 1-2 moderate (PM1-PM6) OR | ||
| (iii) 1 Strong (PS1-PS4) AND ≥2 supporting (PP1-PP5) OR | ||
| (iv) ≥3 Moderate (PM1-PM6) OR | ||
| (v) 2 Moderate (PM1-PM6) AND ≥2 supporting (PP1-PP5) | ||
| (vi) 1 Moderate (PM1-PM6) AND ≥4 supporting (PP1-PP5) | ||
| Benign |
(i) 1 Stand-alone (BA1) OR | |
| (ii) ≥2 Strong (BS1-BS4) | ||
| Likely benign |
(i) 1 Strong (BS1-BS4) and 1 supporting (BP1-BP7) OR | |
| (ii) ≥2 Supporting | ||
| Uncertain significance |
(i) Other criteria shown above are not met OR | |
| (ii)the criteria for benign and pathogenic are contradictory️ |
This page is a partial implementation of an article of
Richards S, Aziz N, Bale S, et al.
Standards and guidelines for the interpretation of sequence variants:
a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Genetics in medicine.
2015 Mar 5;17(5):405-23.
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