ClinVar Miner

Submissions for variant NM_001378969.1(KCND3):c.627G>C (p.Thr209=)

gnomAD frequency: 0.00182  dbSNP: rs149299911
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000253469 SCV000319873 benign Cardiovascular phenotype 2015-07-15 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000457933 SCV000559628 benign Spinocerebellar ataxia type 19/22 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001701983 SCV000719089 likely benign not provided 2020-07-31 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000605395 SCV001925907 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701983 SCV001931982 likely benign not provided no assertion criteria provided clinical testing

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