ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1766+3G>A

gnomAD frequency: 0.00009  dbSNP: rs748524463
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001437574 SCV001640430 likely benign Spinocerebellar ataxia type 19/22 2022-07-26 criteria provided, single submitter clinical testing
GeneDx RCV000865219 SCV001779985 likely benign not provided 2019-07-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003372896 SCV004097337 likely benign Cardiovascular phenotype 2023-08-16 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.

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