ClinVar Miner

Submissions for variant NM_000338.3(SLC12A1):c.2787C>T (p.Ile929=)

gnomAD frequency: 0.00111  dbSNP: rs145464740
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000381313 SCV000391494 likely benign Bartter disease type 1 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000885239 SCV001028672 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000885239 SCV001145666 benign not provided 2019-01-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001805019 SCV002050878 benign not specified 2021-12-10 criteria provided, single submitter clinical testing

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