Submissions for variant NM_001887.4(CRYBB1):c.328C>T (p.Arg110Cys)

gnomAD frequency: 0.00220  dbSNP: rs147206089

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000526314	SCV000645718	benign	Cataract 17 multiple types	2023-10-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000526314	SCV001308731	benign	Cataract 17 multiple types	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV001573741	SCV004154788	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	CRYBB1: BP4, BS1, BS2; ENSG00000286326: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001573741	SCV005273836	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573741	SCV001800050	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727749	SCV001970481	benign	not specified		no assertion criteria provided	clinical testing