ClinVar Miner

Submissions for variant NM_001386125.1(OBSCN):c.4490G>A (p.Arg1497Gln)

gnomAD frequency: 0.00291  dbSNP: rs199874295
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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 RCV000883626 SCV001026948 benign not provided 2018-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028327 SCV002630719 likely benign not specified 2022-09-02 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 RCV000883626 SCV004125794 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing OBSCN: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000883626 SCV005281871 benign not provided criteria provided, single submitter not provided

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