ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2721-13T>C

gnomAD frequency: 0.18153  dbSNP: rs34772420
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252138 SCV000303709 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000348013 SCV000398141 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome-Nilou Lab RCV000348013 SCV001761511 benign Familial hypokalemia-hypomagnesemia 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001668425 SCV001891944 benign not provided 2019-08-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001668425 SCV002335939 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668425 SCV005292641 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000252138 SCV001932652 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000252138 SCV001955663 benign not specified no assertion criteria provided clinical testing

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