ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2739G>A (p.Ala913=)

gnomAD frequency: 0.00056  dbSNP: rs373411041
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153353 SCV000202837 uncertain significance not provided 2014-04-15 criteria provided, single submitter clinical testing
Invitae RCV001083291 SCV000554508 benign Brugada syndrome 8 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619436 SCV000735206 likely benign Cardiovascular phenotype 2015-11-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Illumina Laboratory Services, Illumina RCV001118936 SCV001277257 benign Sick sinus syndrome 2, autosomal dominant 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000153353 SCV001882057 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000153353 SCV001744654 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699131 SCV001921761 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000153353 SCV001954439 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000153353 SCV001969694 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000153353 SCV001978189 likely benign not provided no assertion criteria provided clinical testing

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