ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1303-4G>A

gnomAD frequency: 0.00006  dbSNP: rs765944934
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703655 SCV000520523 likely benign not provided 2019-06-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618277 SCV000737833 likely benign Cardiovascular phenotype 2023-11-22 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.
Invitae RCV002519521 SCV003295359 benign Brugada syndrome 4 2023-03-08 criteria provided, single submitter clinical testing

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