ClinVar Miner

Submissions for variant NM_014989.7(RIMS1):c.1533G>A (p.Pro511=)

gnomAD frequency: 0.00006  dbSNP: rs201473375
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179486 SCV000231742 uncertain significance not provided 2014-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000179486 SCV001057384 benign not provided 2025-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955083 SCV004770601 likely benign RIMS1-related disorder 2020-02-19 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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