Submissions for variant NM_004076.5(CRYBB3):c.337C>G (p.His113Asp)

gnomAD frequency: 0.58489  dbSNP: rs9608378

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250899	SCV000309966	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000318939	SCV000437588	benign	Congenital nuclear cataract	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000840122	SCV000982039	benign	not provided	2018-03-24	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520886	SCV001730099	benign	Cataract 22 multiple types	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001520886	SCV001876345	benign	Cataract 22 multiple types	2021-07-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000840122	SCV005278520	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000250899	SCV001743184	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000250899	SCV001951230	benign	not specified		no assertion criteria provided	clinical testing