ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.1703G>C (p.Ser568Thr) (rs138714806)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001537804 SCV000223488 likely benign not provided 2021-01-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26350513)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000185509 SCV000231083 likely benign not specified 2015-09-17 criteria provided, single submitter clinical testing
Invitae RCV000234448 SCV000288899 likely benign Brugada syndrome 8 2020-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620504 SCV000735825 likely benign Cardiovascular phenotype 2019-06-12 criteria provided, single submitter clinical testing Other strong data supporting benign classification
Illumina Clinical Services Laboratory,Illumina RCV001115973 SCV001273990 benign Sick sinus syndrome 2, autosomal dominant 2018-01-12 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.

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