ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2961C>T (p.Ser987=)

gnomAD frequency: 0.00010  dbSNP: rs760690845
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000977049 SCV001124960 likely benign not provided 2024-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503115 SCV002813000 likely benign Familial hypokalemia-hypomagnesemia 2022-02-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003936208 SCV004752414 likely benign SLC12A3-related disorder 2019-06-26 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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