ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.2062C>T (p.Arg688Trp)

gnomAD frequency: 0.00024  dbSNP: rs368380934
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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 RCV000878343 SCV001021232 likely benign not provided 2023-10-11 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000878343 SCV001448864 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000878343 SCV004235327 uncertain significance not provided 2023-03-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549997 SCV004762599 likely benign CLCN2-related disorder 2023-06-29 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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