Submissions for variant NM_001378969.1(KCND3):c.1354G>A (p.Glu452Lys)

gnomAD frequency: 0.00012  dbSNP: rs200532657

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000518610	SCV000613847	benign	not specified	2017-04-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000766997	SCV000619987	likely benign	not provided	2020-03-27	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24440382)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001078864	SCV000640058	benign	Spinocerebellar ataxia type 19/22	2023-05-25	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852587	SCV000995289	benign	Primary dilated cardiomyopathy	2019-06-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002383993	SCV002693125	likely benign	Cardiovascular phenotype	2021-04-13	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	RCV004553134	SCV004790200	likely benign	KCND3-related disorder	2019-04-30	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).
Breakthrough Genomics, Breakthrough Genomics	RCV000766997	SCV005259281	likely benign	not provided		criteria provided, single submitter	not provided