Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Breakthrough Genomics, |
RCV001697123 | SCV005215661 | likely benign | not provided | criteria provided, single submitter | not provided | ||
| Ambry Genetics | RCV002453611 | SCV002738710 | likely benign | Inborn genetic diseases | 2019-07-11 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Molecular Genetics Laboratory, |
RCV001174204 | SCV001337330 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
| Labcorp Genetics |
RCV000872910 | SCV001014801 | benign | Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S | 2025-01-27 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001697123 | SCV000531154 | likely benign | not provided | 2019-04-02 | criteria provided, single submitter | clinical testing | |
| Eurofins Ntd Llc |
RCV000174727 | SCV000226088 | benign | not specified | 2015-03-06 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV004552965 | SCV004722806 | likely benign | IGHMBP2-related disorder | 2019-06-18 | 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). |