ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2028C>T (p.His676=)

gnomAD frequency: 0.00073  dbSNP: rs35070204
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000900444 SCV001044763 benign not provided 2024-12-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001120156 SCV001278622 uncertain significance Familial hypokalemia-hypomagnesemia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001120156 SCV002055304 likely benign Familial hypokalemia-hypomagnesemia 2021-07-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001120156 SCV002089366 likely benign Familial hypokalemia-hypomagnesemia 2020-02-23 no assertion criteria provided clinical testing

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