ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.791C>G (p.Ala264Gly)

gnomAD frequency: 0.97710  dbSNP: rs1529927
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000614700 SCV000711754 benign not specified 2016-02-17 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.791C) is the minor allele. This al lele (C) has been identified in 3.65% (2438/66728) of European chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs15 29927) and thus meets criteria to be classified as benign.
Mendelics RCV000989607 SCV001140111 benign Familial hypokalemia-hypomagnesemia 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512559 SCV001720000 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000989607 SCV001761464 benign Familial hypokalemia-hypomagnesemia 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001512559 SCV001842954 benign not provided 2019-12-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25892104, 17460608, 10988270, 15480096, 27884173, 11940055, 20981092, 14766743, 21415153, 22245519)
Fulgent Genetics, Fulgent Genetics RCV000989607 SCV002795995 benign Familial hypokalemia-hypomagnesemia 2021-07-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001512559 SCV005292604 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000989607 SCV001458488 benign Familial hypokalemia-hypomagnesemia 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614700 SCV001743627 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000614700 SCV001932249 benign not specified no assertion criteria provided clinical testing

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