Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000311972 | SCV000336066 | benign | not specified | 2016-02-03 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000535300 | SCV000638445 | benign | Facioscapulohumeral muscular dystrophy 2 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001651309 | SCV001862683 | benign | not provided | 2021-04-12 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000311972 | SCV001880532 | likely benign | not specified | 2021-01-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002503989 | SCV002813595 | likely benign | Arrhinia with choanal atresia and microphthalmia syndrome; Facioscapulohumeral muscular dystrophy 2 | 2021-12-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001651309 | SCV004144738 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | SMCHD1: BP4, BS2 |
Prevention |
RCV003955453 | SCV004770219 | benign | SMCHD1-related disorder | 2021-04-14 | 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). |