ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.957C>G (p.Ser319=)

gnomAD frequency: 0.00386  dbSNP: rs61733426
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465050 SCV000559629 benign Spinocerebellar ataxia type 19/22 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000603249 SCV000714046 benign not specified 2017-02-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000618250 SCV000736333 benign Cardiovascular phenotype 2016-10-17 criteria provided, single submitter clinical testing This alteration is classified as 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.
Athena Diagnostics RCV000603249 SCV001476512 benign not specified 2020-06-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000603249 SCV004803398 benign not specified 2024-01-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714025 SCV005280379 benign not provided criteria provided, single submitter not provided

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