ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2419+8G>A

gnomAD frequency: 0.00002  dbSNP: rs372318235
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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 RCV001431264 SCV001634017 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501526 SCV002809305 likely benign Familial hypokalemia-hypomagnesemia 2022-04-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938747 SCV004752792 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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