Submissions for variant NM_025114.4(CEP290):c.442-19T>A

gnomAD frequency: 0.05334  dbSNP: rs113132803

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000114198	SCV000232309	benign	not specified	2014-05-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000114198	SCV000314553	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520854	SCV001730065	benign	Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001711273	SCV001939186	benign	not provided	2019-09-02	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001711273	SCV005234261	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000114198	SCV000147751	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000114198	SCV001959781	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000114198	SCV001970439	benign	not specified		no assertion criteria provided	clinical testing