ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1128+1811G>A

gnomAD frequency: 0.00018  dbSNP: rs41313083
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001841899 SCV000907172 likely benign Cardiac arrhythmia 2018-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000827553 SCV000969206 likely benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424765 SCV002742756 likely benign Cardiovascular phenotype 2019-10-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Clinical Genetics, Academic Medical Center RCV001701314 SCV001920991 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000827553 SCV001931639 likely benign not provided no assertion criteria provided clinical testing

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