ClinVar Miner

Submissions for variant NM_001376256.1(CRYM):c.474G>A (p.Gln158=)

gnomAD frequency: 0.00008  dbSNP: rs371633413
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591464 SCV000703228 uncertain significance not provided 2016-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000591464 SCV002008570 likely benign not provided 2019-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000591464 SCV003269927 likely benign not provided 2022-05-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915702 SCV004735412 likely benign CRYM-related disorder 2024-08-01 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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