ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.1978+3G>T

gnomAD frequency: 0.00166  dbSNP: rs113112855
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000332237 SCV000340712 benign not specified 2016-04-19 criteria provided, single submitter clinical testing
Invitae RCV000466388 SCV000554489 benign Brugada syndrome 8 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001697640 SCV000714890 likely benign not provided 2020-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621462 SCV000735711 likely benign Cardiovascular phenotype 2018-08-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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