ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1314G>A (p.Ser438=)

gnomAD frequency: 0.00003  dbSNP: rs1247179970
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663479 SCV001879963 uncertain significance not provided 2021-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163786 SCV003854550 likely benign Cardiovascular phenotype 2022-12-15 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 RCV003640983 SCV004507631 likely benign Spinocerebellar ataxia type 19/22 2023-05-30 criteria provided, single submitter clinical testing

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