ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.399C>T (p.Tyr133=)

gnomAD frequency: 0.00001  dbSNP: rs144184587
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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 RCV002119742 SCV002391028 likely benign Spinocerebellar ataxia type 19/22 2022-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352850 SCV002622504 likely benign Cardiovascular phenotype 2019-10-04 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987970 SCV004803397 likely benign not specified 2024-01-15 criteria provided, single submitter clinical testing

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