ClinVar Miner

Submissions for variant NM_001386125.1(OBSCN):c.6858G>A (p.Glu2286=)

dbSNP: rs1572730804
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000918365 SCV001063672 likely benign not provided 2018-05-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000918365 SCV005263863 likely benign not provided criteria provided, single submitter not provided
Ambry Genetics RCV004837781 SCV005466713 likely benign not specified 2024-10-14 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.

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