ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.315G>A (p.Ser105=) (rs563859144)

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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 RCV000609070 SCV000712286 likely benign not specified 2016-06-21 criteria provided, single submitter clinical testing p.Ser105Ser in Exon 3 of KCNE1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 2/66144 chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs563859144).
Ambry Genetics RCV000621004 SCV000737666 benign Cardiovascular phenotype 2015-06-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Other strong data supporting benign classification
Invitae RCV000866153 SCV001007213 likely benign not provided 2018-09-14 criteria provided, single submitter clinical testing

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