Submissions for variant NM_001378969.1(KCND3):c.1269+15C>A

gnomAD frequency: 0.16477  dbSNP: rs3738298

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000254436	SCV000310751	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000254436	SCV000519455	benign	not specified	2016-09-26	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	RCV002058177	SCV002325619	benign	Spinocerebellar ataxia type 19/22	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000254436	SCV003929384	benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004714586	SCV005280377	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000254436	SCV001925128	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000254436	SCV001975805	benign	not specified		no assertion criteria provided	clinical testing