Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome- |
RCV001731068 | SCV001981163 | benign | Pachyonychia congenita 3 | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002073960 | SCV002493931 | benign | not provided | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV002073960 | SCV005229538 | benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003976121 | SCV004793278 | benign | KRT6A-related disorder | 2019-10-18 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |