ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.789C>T (p.Asp263=)

gnomAD frequency: 0.00019  dbSNP: rs373264592
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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 RCV001522832 SCV001732447 benign Spinocerebellar ataxia type 19/22 2021-12-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001664490 SCV001879968 benign not specified 2020-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409014 SCV002675615 likely benign Cardiovascular phenotype 2020-10-02 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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