ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.18G>A (p.Ala6=)

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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 RCV002408232 SCV002718146 likely benign Cardiovascular phenotype 2022-03-06 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.
Invitae RCV003526189 SCV004369876 likely benign Spinocerebellar ataxia type 19/22 2023-03-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548294 SCV004714266 likely benign KCND3-related disorder 2021-11-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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