ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1959C>T (p.Ser653=)

gnomAD frequency: 0.00027  dbSNP: rs147087785
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000640970 SCV000717461 likely benign not provided 2019-06-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618336 SCV000737484 likely benign Cardiovascular phenotype 2016-03-31 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 RCV001088457 SCV000762575 likely benign Spinocerebellar ataxia type 19/22 2024-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000640970 SCV001144307 benign not provided 2018-09-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000640970 SCV001745940 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing KCND3: BP4, BP7

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