Submissions for variant NM_173689.7(CRB2):c.3699CCT[7] (p.Leu1239dup)

dbSNP: rs767432277

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001434521	SCV001637330	likely benign	not provided	2025-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001434521	SCV001991050	uncertain significance	not provided	2019-06-06	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV003355476	SCV004052959	uncertain significance	Inborn genetic diseases	2023-08-24	criteria provided, single submitter	clinical testing	The c.3714_3716dupCCT (p.L1239dup) alteration is located in exon 13 (coding exon 13) of the CRB2 gene. The alteration consists of an in-frame duplication of 3 nucleotides from position 3714 to 3716, resulting in the duplication of 1 residue. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genetic Services Laboratory, University of Chicago	RCV003151318	SCV003839384	likely benign	not specified	2022-11-23	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004550162	SCV004736852	likely benign	CRB2-related disorder	2022-11-02	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).