ClinVar Miner

Submissions for variant NM_001386125.1(OBSCN):c.23385_23386del (p.Ala7795_Ser7796insTer)

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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 RCV002937866 SCV003260562 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002937866 SCV004126042 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing OBSCN: BS1
OMIM RCV003152650 SCV003841052 risk factor Rhabdomyolysis, susceptibility to, 1 2023-02-03 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004750787 SCV005351705 uncertain significance OBSCN-related disorder 2024-03-29 no assertion criteria provided clinical testing The OBSCN c.23385_23386delCA variant is predicted to result in an in-frame deletion (p.Ser7796fs). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.93% of alleles in individuals of European (Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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