ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.107G>A (p.Gly36Glu) (rs143090627)

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Total submissions: 7
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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 RCV000153356 SCV000050818 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000153356 SCV000168798 benign not specified 2014-01-23 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153356 SCV000202840 benign not specified 2016-04-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000153356 SCV000311089 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000619819 SCV000735006 benign Cardiovascular phenotype 2015-08-01 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV001119029 SCV001277365 benign Sick sinus syndrome 2, autosomal dominant 2018-01-18 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae RCV001521286 SCV001730596 benign Brugada syndrome 8 2020-12-08 criteria provided, single submitter clinical testing

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