ClinVar Miner

Submissions for variant NM_000085.4(CLCNKB):c.1877G>A (p.Cys626Tyr) (rs143663847)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455750 SCV000538693 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in 1000Genomes: 35/2178=1.6%
Athena Diagnostics Inc RCV000711253 SCV000841587 benign not provided 2018-03-27 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV001258278 SCV001435203 benign Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant criteria provided, single submitter research The p.Cys626Tyr variant in CLCNKB has been identified in an individual from a patient cohort with suspected Gitelman Syndrome (PMID: 21415153). However, this variant is classified as benign for Bartter syndrome because it has been identified in >5% of Latino chromosomes by ExAC (http://gnomad.broadinstitute.org/).

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