ClinVar Miner

Submissions for variant NM_001386125.1(OBSCN):c.2342G>A (p.Arg781His)

gnomAD frequency: 0.00208  dbSNP: rs144514297
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000891237 SCV001035044 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028404 SCV003911487 likely benign not specified 2022-11-19 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.
CeGaT Center for Human Genetics Tuebingen RCV000891237 SCV004125780 benign not provided 2022-10-01 criteria provided, single submitter clinical testing OBSCN: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000891237 SCV005263857 likely benign not provided criteria provided, single submitter not provided

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