ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.459G>A (p.Ser153=)

gnomAD frequency: 0.00018  dbSNP: rs755206508
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000712064 SCV000720073 likely benign not provided 2021-05-13 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712064 SCV000842478 benign not provided 2018-02-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079409 SCV001003218 benign Spinocerebellar ataxia type 19/22 2023-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341572 SCV002639949 likely benign Cardiovascular phenotype 2018-08-13 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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