ClinVar Miner

Submissions for variant NM_001376256.1(CRYM):c.524A>T (p.Glu175Val)

gnomAD frequency: 0.00150  dbSNP: rs141936944
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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 RCV000967407 SCV001114791 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000967407 SCV002007921 likely benign not provided 2020-08-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503043 SCV002809409 likely benign Autosomal dominant nonsyndromic hearing loss 40 2021-10-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905926 SCV004720150 benign CRYM-related disorder 2019-09-17 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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