ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.1558C>T (p.Leu520=) (rs12909882)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125349 SCV000168800 benign not specified 2014-01-22 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 RCV000125349 SCV000311090 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000125349 SCV000613589 benign not specified 2017-05-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619429 SCV000735003 benign Cardiovascular phenotype 2015-06-23 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 RCV001115976 SCV001273994 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 RCV001521438 SCV001730783 benign Brugada syndrome 8 2020-12-08 criteria provided, single submitter clinical testing

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