ClinVar Miner

Submissions for variant NM_001386125.1(OBSCN):c.23838del (p.Ser7947fs)

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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 RCV002882210 SCV003242183 benign not provided 2022-08-30 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002882210 SCV003799026 uncertain significance not provided 2022-12-12 criteria provided, single submitter clinical testing Gene of Uncertain Significance
CeGaT Center for Human Genetics Tuebingen RCV002882210 SCV004126047 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing OBSCN: BS2
PreventionGenetics, part of Exact Sciences RCV003903790 SCV004725661 likely benign OBSCN-related disorder 2022-12-15 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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