ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=)

gnomAD frequency: 0.00014  dbSNP: rs150378634
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000267192 SCV000398128 uncertain significance Familial hypokalemia-hypomagnesemia 2018-01-12 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 RCV000924763 SCV001070285 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000267192 SCV002055301 likely benign Familial hypokalemia-hypomagnesemia 2021-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000924763 SCV004139426 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing SLC12A3: BP4, BP7
Natera, Inc. RCV000267192 SCV001458565 uncertain significance Familial hypokalemia-hypomagnesemia 2019-11-11 no assertion criteria provided clinical testing

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