ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.366C>T (p.His122=)

gnomAD frequency: 0.00003  dbSNP: rs761207251
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600472 SCV000722818 likely benign not specified 2017-09-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001492565 SCV001697179 likely benign Brugada syndrome 5 2023-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456361 SCV002615708 likely benign Cardiovascular phenotype 2021-03-26 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.

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