ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.453C>T (p.His151=)

gnomAD frequency: 0.00002  dbSNP: rs199996750
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001675903 SCV000557119 likely benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841386 SCV001339908 likely benign Cardiac arrhythmia 2018-10-22 criteria provided, single submitter clinical testing
GeneDx RCV001675903 SCV001895210 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329108 SCV002634164 likely benign Cardiovascular phenotype 2022-09-05 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001675903 SCV003799265 likely benign not provided 2022-05-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235233 SCV003934259 likely benign not specified 2023-05-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001841386 SCV004822769 likely benign Cardiac arrhythmia 2023-12-01 criteria provided, single submitter clinical testing

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