Submissions for variant NM_001298.3(CNGA3):c.592G>A (p.Glu198Lys)

gnomAD frequency: 0.01129  dbSNP: rs2271041

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000438002	SCV000511192	likely benign	not provided	2017-01-24	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Invitae	RCV000438002	SCV001112115	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001140913	SCV001301218	benign	Achromatopsia 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000438002	SCV001765679	likely benign	not provided	2021-06-29	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research	RCV001140913	SCV001571321	benign	Achromatopsia 2	2021-04-15	no assertion criteria provided	research