ClinVar Miner

Submissions for variant NM_001386125.1(OBSCN):c.7511C>G (p.Pro2504Arg)

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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 RCV005101710 SCV005793711 benign not provided 2024-12-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003914121 SCV004731928 benign OBSCN-related disorder 2019-04-01 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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