ClinVar Miner

Submissions for variant NM_000338.3(SLC12A1):c.1216-13T>A

gnomAD frequency: 0.00006  dbSNP: rs200223149
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001115319 SCV001273288 likely benign Bartter disease type 1 2018-01-12 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Fulgent Genetics, Fulgent Genetics RCV001115319 SCV002801008 likely benign Bartter disease type 1 2021-11-23 criteria provided, single submitter clinical testing
Invitae RCV002556263 SCV002929779 benign not provided 2024-01-18 criteria provided, single submitter clinical testing

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