ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.1950C>A (p.Thr650=)

gnomAD frequency: 0.00011  dbSNP: rs181954380
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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 RCV003811910 SCV004616248 benign not provided 2024-12-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003909160 SCV004721505 likely benign CLCN5-related disorder 2019-07-30 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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