ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.542G>A (p.Arg181Gln)

gnomAD frequency: 0.00317  dbSNP: rs41308954
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080698 SCV000262091 benign Long QT syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617359 SCV000736353 benign Cardiovascular phenotype 2016-11-01 criteria provided, single submitter clinical testing This alteration is classified as 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000058239 SCV000885628 likely benign not provided 2023-01-03 criteria provided, single submitter clinical testing
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust RCV000058239 SCV000089759 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:14661677;PMID:19841300).

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