Submissions for variant NM_201253.3(CRB1):c.866C>T (p.Thr289Met)

gnomAD frequency: 0.00025  dbSNP: rs62636263

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000339959	SCV000352793	likely benign	Leber congenital amaurosis 8	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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079750	SCV000650639	likely benign	Retinitis pigmentosa 12; Leber congenital amaurosis 8	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000339959	SCV004178865	likely benign	Leber congenital amaurosis 8	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453032	SCV004178866	likely benign	Pigmented paravenous retinochoroidal atrophy	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453031	SCV004178867	likely benign	Retinitis pigmentosa 12	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000086363	SCV005261004	likely benign	not provided		criteria provided, single submitter	not provided
Retina International	RCV000086363	SCV000118509	not provided	not provided		no assertion provided	not provided
Natera, Inc.	RCV001275645	SCV001460936	likely benign	Leber congenital amaurosis	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004739353	SCV005341294	likely benign	CRB1-related disorder	2024-07-25	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).