ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.324C>T (p.Tyr108=)

gnomAD frequency: 0.00001  dbSNP: rs777559132
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002081118 SCV002378617 likely benign Spinocerebellar ataxia type 19/22 2023-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002324561 SCV002610902 likely benign Cardiovascular phenotype 2022-07-23 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.
PreventionGenetics, part of Exact Sciences RCV004553699 SCV004791931 likely benign KCND3-related disorder 2019-04-25 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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