ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys)

gnomAD frequency: 0.00006  dbSNP: rs201627778
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171663 SCV000055274 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000412673 SCV000234182 likely benign not specified 2017-12-06 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 RCV001085306 SCV000555912 likely benign Long QT syndrome 2024-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618660 SCV000736285 likely benign Cardiovascular phenotype 2021-01-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mendelics RCV000988001 SCV001137545 uncertain significance Long QT syndrome 2 2019-05-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001842517 SCV001351720 likely benign Cardiac arrhythmia 2018-11-21 criteria provided, single submitter clinical testing

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