Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000950627 | SCV001096954 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004029806 | SCV002668854 | likely benign | not specified | 2022-02-11 | 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. |
Breakthrough Genomics, |
RCV000950627 | SCV005281890 | benign | not provided | criteria provided, single submitter | not provided | ||
Prevention |
RCV003913310 | SCV004736496 | benign | OBSCN-related disorder | 2019-04-01 | 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). |