Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001617220 | SCV001846561 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001730877 | SCV001981165 | benign | Pachyonychia congenita 3 | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001617220 | SCV005229542 | benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003980803 | SCV004799633 | benign | KRT6A-related disorder | 2019-09-24 | 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). |