ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.375G>A (p.Pro125=)

gnomAD frequency: 0.01862  dbSNP: rs2289723
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419505 SCV000519958 benign not specified 2016-10-26 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000459525 SCV000559631 benign Spinocerebellar ataxia type 19/22 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618142 SCV000735131 benign Cardiovascular phenotype 2015-06-09 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 RCV000419505 SCV001476508 benign not specified 2019-10-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000419505 SCV003929385 benign not specified 2023-04-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713952 SCV005280381 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000419505 SCV001920799 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000419505 SCV001964987 benign not specified no assertion criteria provided clinical testing

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