ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.2030C>T (p.Thr677Met)

gnomAD frequency: 0.00083  dbSNP: rs41297324
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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 RCV000862975 SCV001003557 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000862975 SCV001896619 benign not provided 2019-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501218 SCV002809094 likely benign Intellectual disability, X-linked 49 2021-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540167 SCV004784072 likely benign CLCN4-related disorder 2022-02-21 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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