Submissions for variant NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys)

gnomAD frequency: 0.00122  dbSNP: rs151092557

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000878361	SCV001021257	likely benign	Retinitis pigmentosa 12; Leber congenital amaurosis 8	2025-01-20	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002501354	SCV002808417	likely benign	Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003454925	SCV004180099	likely benign	Leber congenital amaurosis 8	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003454926	SCV004180100	likely benign	Pigmented paravenous retinochoroidal atrophy	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003454924	SCV004180101	likely benign	Retinitis pigmentosa 12	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004711359	SCV005261007	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001271903	SCV001453397	uncertain significance	Leber congenital amaurosis	2020-01-07	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530881	SCV004731060	likely benign	CRB1-related disorder	2023-04-17	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).