Submissions for variant NM_001378969.1(KCND3):c.1062C>A (p.Ile354=)

gnomAD frequency: 0.00009  dbSNP: rs150934088

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000617822	SCV000737733	likely benign	Cardiovascular phenotype	2016-10-03	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.
Athena Diagnostics	RCV000712056	SCV000842470	benign	not provided	2017-09-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001392551	SCV001594195	likely benign	Spinocerebellar ataxia type 19/22	2023-04-28	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700124	SCV001923560	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000712056	SCV001931645	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000712056	SCV001956105	likely benign	not provided		no assertion criteria provided	clinical testing