Submissions for variant NM_001298.3(CNGA3):c.102-16A>G

dbSNP: rs2279859

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248208	SCV000307633	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000248208	SCV000512654	benign	not specified	2016-03-15	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	RCV001518385	SCV001727062	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001518385	SCV005245864	benign	not provided		criteria provided, single submitter	not provided
Molecular Genetics Laboratory, Institute for Ophthalmic Research	RCV001729486	SCV001571317	benign	Achromatopsia 2	2021-04-15	no assertion criteria provided	research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000248208	SCV001744170	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000248208	SCV001957741	benign	not specified		no assertion criteria provided	clinical testing