ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=)

gnomAD frequency: 0.00048  dbSNP: rs142199602
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000378908 SCV000398113 uncertain significance Familial hypokalemia-hypomagnesemia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000917794 SCV001063085 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000378908 SCV002055294 likely benign Familial hypokalemia-hypomagnesemia 2021-07-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000378908 SCV001458558 benign Familial hypokalemia-hypomagnesemia 2019-11-11 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000917794 SCV001931286 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000917794 SCV001951212 likely benign not provided no assertion criteria provided clinical testing

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