ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) (rs62641689)

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Total submissions: 8
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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 RCV000170931 SCV000050772 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000185511 SCV000223490 benign not specified 2016-11-15 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 RCV000185511 SCV000232682 benign not specified 2015-07-23 criteria provided, single submitter clinical testing
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute RCV000204998 SCV000262544 likely pathogenic Sudden cardiac death 2016-01-05 criteria provided, single submitter research
Invitae RCV000170931 SCV000288901 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000185511 SCV000539274 likely benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.5% (358/65892) Europeans, 3 homozygotes
Ambry Genetics RCV000617204 SCV000735059 likely benign Cardiovascular phenotype 2017-10-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Athena Diagnostics Inc RCV000170931 SCV001144127 benign not provided 2019-04-04 criteria provided, single submitter clinical testing

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