ClinVar Miner

Submissions for variant NM_000085.5(CLCNKB):c.1441A>T (p.Thr481Ser)

gnomAD frequency: 0.13867  dbSNP: rs12140311
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711250 SCV000841584 benign not provided 2017-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000711250 SCV001897025 benign not provided 2019-11-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15148291, 14675050, 19226700)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001805830 SCV002051177 likely benign not specified 2021-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000711250 SCV002438255 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711250 SCV005256411 likely benign not provided criteria provided, single submitter not provided

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