ClinVar Miner

Submissions for variant NM_057176.3(BSND):c.189C>T (p.Val63=) (rs144505461)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039819 SCV000345439 benign not specified 2016-09-09 criteria provided, single submitter clinical testing
GeneDx RCV000826978 SCV000968584 benign not provided 2018-05-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000389182 SCV000358181 uncertain significance Bartter syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039819 SCV000063510 benign not specified 2015-07-01 criteria provided, single submitter clinical testing p.Val63Val in exon 02 of BSND: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.7% of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs144505461).

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