ClinVar Miner

Submissions for variant NM_001184832.2(SLC12A1):c.2873T>C (p.Val958Ala) (rs1552311)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248948 SCV000303694 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323585 SCV000391496 benign Antenatal Bartter Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576385 SCV000677490 benign Bartter syndrome, type 1, antenatal 2017-05-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000248948 SCV000711753 likely benign not specified 2016-02-02 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.2873T) is the minor allele. This a llele (T) has been identified in 0.62% (21/3400) of African chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs15523 11) and thus meets criteria to be classified as likely benign.

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