ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.1308C>G (p.Gly436=)

gnomAD frequency: 0.00005  dbSNP: rs190703406
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532262 SCV000640055 benign Spinocerebellar ataxia type 19/22 2023-10-22 criteria provided, single submitter clinical testing
GeneDx RCV001697310 SCV000722504 likely benign not provided 2019-11-05 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000607881 SCV001879962 benign not specified 2021-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384140 SCV002693778 likely benign Cardiovascular phenotype 2019-02-03 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.

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