ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.3600A>G (p.Pro1200=) (rs529004)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081299 SCV000113208 benign not specified 2016-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000081299 SCV000168806 benign not specified 2013-12-04 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.
PreventionGenetics,PreventionGenetics RCV000081299 SCV000311094 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000622039 SCV000734987 benign Cardiovascular phenotype 2015-03-09 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
Athena Diagnostics Inc RCV000711893 SCV000842304 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001117318 SCV001275494 benign Sick sinus syndrome 2, autosomal dominant 2018-01-15 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 RCV001520605 SCV001729739 benign Brugada syndrome 8 2020-12-08 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000081299 SCV001740168 benign not specified no assertion criteria provided clinical testing

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