ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1920G>A (p.Thr640=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002410705 SCV002717410 likely benign Cardiovascular phenotype 2022-06-22 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.
Athena Diagnostics RCV002473381 SCV002770822 uncertain significance not provided 2021-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003097356 SCV002931903 likely benign Spinocerebellar ataxia type 19/22 2023-10-12 criteria provided, single submitter clinical testing

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