ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.1044C>T (p.Ser348=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002403298 SCV002707414 likely benign Cardiovascular phenotype 2019-10-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096910 SCV003205795 likely benign Brugada syndrome 8 2022-02-24 criteria provided, single submitter clinical testing

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