ClinVar Miner

Submissions for variant NM_001386125.1(OBSCN):c.15633G>A (p.Glu5211=)

gnomAD frequency: 0.00006  dbSNP: rs529583811
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000883609 SCV001026930 benign not provided 2018-06-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955867 SCV004772989 likely benign OBSCN-related disorder 2020-04-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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