ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.2721C>T (p.Ala907=)

dbSNP: rs1800974519
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001841125 SCV001358561 likely benign Cardiac arrhythmia 2018-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429840 SCV002741538 likely benign Cardiovascular phenotype 2021-01-04 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.
Invitae RCV003117832 SCV003790425 likely benign Long QT syndrome 2022-06-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003886486 SCV004703009 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing KCNH2: PM2:Supporting, BP4, BP7

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