Submissions for variant NM_194318.4(B3GLCT):c.348T>C (p.His116=)

gnomAD frequency: 0.96681  dbSNP: rs4943266

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082788	SCV000114832	benign	not specified	2015-05-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082788	SCV000316886	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000835712	SCV000977518	benign	not provided	2018-06-14	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.
Illumina Laboratory Services, Illumina	RCV001114525	SCV001272418	benign	Peters plus syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001114525	SCV001725027	benign	Peters plus syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001114525	SCV001775197	benign	Peters plus syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001114525	SCV002811261	benign	Peters plus syndrome	2021-08-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000835712	SCV005235930	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000082788	SCV001741518	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000082788	SCV001951439	benign	not specified		no assertion criteria provided	clinical testing