ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2285+7C>T

gnomAD frequency: 0.00009  dbSNP: rs774342870
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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 RCV000977777 SCV001125698 likely benign not provided 2023-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503121 SCV002813530 likely benign Familial hypokalemia-hypomagnesemia 2021-11-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000977777 SCV005218448 likely benign not provided criteria provided, single submitter not provided

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