ClinVar Miner

Submissions for variant NM_014989.7(RIMS1):c.3117-7G>A

gnomAD frequency: 0.00032  dbSNP: rs202107254
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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 RCV002102320 SCV002330413 benign not provided 2025-01-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003941277 SCV004754673 likely benign RIMS1-related disorder 2019-02-18 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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