Submissions for variant NM_173689.7(CRB2):c.2680G>A (p.Gly894Ser)

gnomAD frequency: 0.01838  dbSNP: rs144714250

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001510369	SCV001717385	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001510369	SCV001838420	benign	not provided	2020-09-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26795916)
CeGaT Center for Human Genetics Tuebingen	RCV001510369	SCV004160701	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	CRB2: PP2, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001510369	SCV005320495	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001510369	SCV001800238	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001703101	SCV001928144	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004550279	SCV004797717	benign	CRB2-related disorder	2021-01-11	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).