ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.207G>A (p.Thr69=)

gnomAD frequency: 0.00009  dbSNP: rs751347311
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712061 SCV000842475 benign not provided 2018-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087318 SCV001007895 likely benign Spinocerebellar ataxia type 19/22 2023-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422622 SCV002725752 likely benign Cardiovascular phenotype 2019-05-23 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 RCV004547885 SCV004779595 likely benign KCND3-related disorder 2019-09-05 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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