Submissions for variant NM_001378969.1(KCND3):c.1519-4G>T

gnomAD frequency: 0.01109  dbSNP: rs72548732

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000418278	SCV000528013	benign	not specified	2016-12-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000473349	SCV000559627	benign	Spinocerebellar ataxia type 19/22	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618672	SCV000735655	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.
Athena Diagnostics	RCV000418278	SCV001476504	benign	not specified	2020-01-17	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000418278	SCV005205148	benign	not specified	2024-06-17	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000418278	SCV001918992	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000418278	SCV001964886	benign	not specified		no assertion criteria provided	clinical testing