ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1752C>A (p.Pro584=)

gnomAD frequency: 0.00002  dbSNP: rs771385731
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002086644 SCV002437112 likely benign Spinocerebellar ataxia type 19/22 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409547 SCV002716143 likely benign Cardiovascular phenotype 2020-03-18 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.
CeGaT Center for Human Genetics Tuebingen RCV003408138 SCV004124213 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing KCND3: BP4, BP7

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