ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.414C>T (p.Val138=)

gnomAD frequency: 0.00003  dbSNP: rs757116018
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703648 SCV000520221 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Invitae RCV001497487 SCV001702217 likely benign Brugada syndrome 5 2022-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002328940 SCV002630211 benign Cardiovascular phenotype 2020-01-16 criteria provided, single submitter clinical testing This alteration is classified as 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.

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