ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val)

dbSNP: rs778053688
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621723 SCV000737652 likely benign Cardiovascular phenotype 2024-01-30 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.
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000678953 SCV000805168 uncertain significance Brugada syndrome 9 2018-04-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000801665 SCV000941453 likely benign Spinocerebellar ataxia type 19/22 2024-12-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV005000387 SCV005620584 uncertain significance not provided 2024-07-17 criteria provided, single submitter clinical testing

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