ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.93C>T (p.Pro31=)

gnomAD frequency: 0.00143  dbSNP: rs34055681
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000921311 SCV001066712 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000921311 SCV002006130 likely benign not provided 2021-05-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001273919 SCV002055367 benign Familial hypokalemia-hypomagnesemia 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000921311 SCV005216509 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001273919 SCV001457515 likely benign Familial hypokalemia-hypomagnesemia 2020-04-27 no assertion criteria provided clinical testing

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