ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.705C>G (p.Gly235=)

gnomAD frequency: 0.00005  dbSNP: rs777452988
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194552 SCV000247042 likely benign not specified 2018-12-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000872242 SCV001014029 likely benign not provided 2024-10-24 criteria provided, single submitter clinical testing
GeneDx RCV000872242 SCV001791977 likely benign not provided 2020-04-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004732775 SCV005353528 likely benign CLCN4-related disorder 2019-04-26 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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