Submissions for variant NM_005208.5(CRYBA1):c.456C>T (p.Gly152=)

gnomAD frequency: 0.22069  dbSNP: rs1047790

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253574	SCV000310900	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000837952	SCV000979814	benign	not provided	2018-04-02	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	RCV001520818	SCV001730018	benign	Cataract 10 multiple types	2024-01-25	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000837952	SCV005253715	benign	not provided		criteria provided, single submitter	not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000253574	SCV001953220	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000253574	SCV001963418	benign	not specified		no assertion criteria provided	clinical testing