ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.651G>A (p.Pro217=)

gnomAD frequency: 0.00006  dbSNP: rs186974111
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603771 SCV000716541 likely benign not specified 2017-03-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001411201 SCV001613258 likely benign Spinocerebellar ataxia type 19/22 2023-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368048 SCV002660147 likely benign Cardiovascular phenotype 2022-05-30 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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