ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.1665C>T (p.Tyr555=)

gnomAD frequency: 0.00003  dbSNP: rs147075615
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001455659 SCV001659424 likely benign Brugada syndrome 8 2024-04-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004616734 SCV005128584 likely benign Cardiovascular phenotype 2024-04-12 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.
Clinical Genetics, Academic Medical Center RCV001701166 SCV001918159 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701166 SCV001970301 benign not specified no assertion criteria provided clinical testing

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