Submissions for variant NM_002296.4(LBR):c.117G>A (p.Val39=)

gnomAD frequency: 0.71598  dbSNP: rs1056607

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245794	SCV000308817	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000338935	SCV000355103	benign	Greenberg dysplasia	2018-01-12	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000245794	SCV000539503	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 71% of total chromosomes in ExAC
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000712168	SCV000604091	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000712168	SCV000842597	benign	not provided	2018-05-06	criteria provided, single submitter	clinical testing
Invitae	RCV000712168	SCV001726134	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000712168	SCV001838833	benign	not provided	2018-08-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730618	SCV001981318	benign	Reynolds syndrome	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000338935	SCV001981319	benign	Greenberg dysplasia	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730617	SCV001981320	benign	Pelger-Huët anomaly	2021-08-19	criteria provided, single submitter	clinical testing