Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000951297 | SCV001097685 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000951297 | SCV005231395 | benign | not provided | criteria provided, single submitter | not provided | ||
Natera, |
RCV001274823 | SCV001459314 | uncertain significance | Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 2020-04-17 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003915782 | SCV004734089 | likely benign | MED17-related disorder | 2019-05-09 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |