ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1023C>T (p.Phe341=)

gnomAD frequency: 0.04172  dbSNP: rs2229209
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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 RCV000244247 SCV000303696 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398195 SCV000398105 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.
Athena Diagnostics RCV000398195 SCV000677491 benign Familial hypokalemia-hypomagnesemia 2017-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001511646 SCV001718923 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000398195 SCV001761465 benign Familial hypokalemia-hypomagnesemia 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001511646 SCV001841267 benign not provided 2019-10-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001511646 SCV005292605 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000398195 SCV001458490 benign Familial hypokalemia-hypomagnesemia 2020-09-16 no assertion criteria provided clinical testing

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