ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1539C>T (p.Tyr513=)

gnomAD frequency: 0.00544  dbSNP: rs146805986
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV000514019 SCV005216519 likely benign not provided criteria provided, single submitter not provided
Genome-Nilou Lab RCV001115447 SCV002055374 benign Familial hypokalemia-hypomagnesemia 2021-07-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001115447 SCV001273424 benign Familial hypokalemia-hypomagnesemia 2017-04-28 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000514019 SCV001032720 benign not provided 2025-01-26 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000518560 SCV000615284 benign not specified 2016-10-07 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514019 SCV000610551 likely benign not provided 2017-02-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001115447 SCV002089353 benign Familial hypokalemia-hypomagnesemia 2019-12-06 no assertion criteria provided clinical testing

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