Submissions for variant NM_001298.3(CNGA3):c.458C>T (p.Thr153Met)

gnomAD frequency: 0.00836  dbSNP: rs34314205

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000382107	SCV000338220	benign	not specified	2016-01-27	criteria provided, single submitter	clinical testing
Invitae	RCV000948604	SCV001094820	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001140364	SCV001300615	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000948604	SCV002504272	likely benign	not provided	2021-01-06	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen	RCV000948604	SCV002585801	benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	CNGA3: BS1, BS2