ClinVar Miner

Submissions for variant NM_001386125.1(OBSCN):c.17330T>C (p.Leu5777Pro)

gnomAD frequency: 0.00683  dbSNP: rs188302055
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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 RCV000953652 SCV001100232 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000953652 SCV005284107 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003915831 SCV004728391 benign OBSCN-related disorder 2019-03-06 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).

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