Submissions for variant NM_033100.4(CDHR1):c.2439T>C (p.Thr813=)

gnomAD frequency: 0.58250  dbSNP: rs3814213

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175239	SCV000226688	benign	not specified	2014-11-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000175239	SCV000315192	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000365022	SCV000365454	benign	Cone-Rod Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000836658	SCV000978504	benign	not provided	2018-04-26	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	RCV000836658	SCV001724240	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554871	SCV001776193	benign	Cone-rod dystrophy 15	2021-07-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000836658	SCV005317566	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000175239	SCV001744426	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000175239	SCV001953145	benign	not specified		no assertion criteria provided	clinical testing