ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1110G>T (p.Thr370=)

dbSNP: rs202025024
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001843156 SCV001348961 likely benign Cardiac arrhythmia 2018-12-13 criteria provided, single submitter clinical testing
Invitae RCV003657048 SCV001644601 likely benign not provided 2023-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429820 SCV002743573 likely benign Cardiovascular phenotype 2019-07-18 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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