Submissions for variant NM_001378969.1(KCND3):c.117T>C (p.Asp39=)

gnomAD frequency: 0.00128  dbSNP: rs12720446

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000472459	SCV000559633	benign	Spinocerebellar ataxia type 19/22	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001696884	SCV000719088	likely benign	not provided	2020-07-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620105	SCV000737565	benign	Cardiovascular phenotype	2016-06-07	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.
Fulgent Genetics, Fulgent Genetics	RCV002496827	SCV002797857	likely benign	Spinocerebellar ataxia type 19/22; Brugada syndrome 9	2021-08-17	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000600534	SCV001922190	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001696884	SCV001931133	likely benign	not provided		no assertion criteria provided	clinical testing