Submissions for variant NM_001298.3(CNGA3):c.1569C>T (p.Asn523=)

gnomAD frequency: 0.00467  dbSNP: rs61752503

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000393061	SCV000336649	likely benign	not specified	2015-10-29	criteria provided, single submitter	clinical testing
Invitae	RCV000964405	SCV001111607	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001139696	SCV001299877	uncertain significance	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV000964405	SCV001757386	likely benign	not provided	2019-01-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15712225)
CeGaT Center for Human Genetics Tuebingen	RCV000964405	SCV004148877	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	CNGA3: BP4, BP7, BS2