Submissions for variant NM_201253.3(CRB1):c.2462C>T (p.Thr821Met)

gnomAD frequency: 0.00019  dbSNP: rs142857810

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000488061	SCV000232366	uncertain significance	not provided	2014-12-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000488061	SCV000574803	uncertain significance	not provided	2016-11-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087243	SCV001107782	benign	Retinitis pigmentosa 12; Leber congenital amaurosis 8	2025-02-03	criteria provided, single submitter	clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear	RCV001376275	SCV001573358	likely benign	Retinitis pigmentosa 12	2021-04-08	criteria provided, single submitter	research	The CRB1 c.2462C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: BP4, BS2, PM1, PM3. Based on this evidence we have classified this variant as Likely Benign.
Genome-Nilou Lab	RCV001563786	SCV001786813	uncertain significance	Leber congenital amaurosis 8	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001376275	SCV001786814	uncertain significance	Retinitis pigmentosa 12	2021-07-14	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888637	SCV004706130	uncertain significance	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Clinical Genetics, Academic Medical Center	RCV000488061	SCV001919566	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000488061	SCV001957647	uncertain significance	not provided		no assertion criteria provided	clinical testing