ClinVar Miner

Submissions for variant NM_000218.2(KCNQ1):c.225T>C (p.Val75=) (rs367817352)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150862 SCV000198421 likely benign not specified 2013-04-10 criteria provided, single submitter clinical testing The Val75Val variant in exon 1 of KCNQ1: This variant is not expected to have cl inical significance because it does not alter an amino acid residue and is not l ocated within the splice consensus sequence.
GeneDx RCV000150862 SCV000513353 benign not specified 2016-10-04 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.
Invitae RCV000458474 SCV000555796 likely benign Long QT syndrome 2017-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618148 SCV000738188 likely benign Cardiovascular phenotype 2017-10-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)

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