Submissions for variant NM_002296.4(LBR):c.461G>A (p.Ser154Asn)

gnomAD frequency: 0.72194  dbSNP: rs2230419

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245894	SCV000308820	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000287243	SCV000355099	benign	Greenberg dysplasia	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000245894	SCV000539501	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: 80% of total chromosomes in ExAC
Athena Diagnostics Inc	RCV000712172	SCV000842602	benign	not provided	2018-05-06	criteria provided, single submitter	clinical testing
Invitae	RCV000712172	SCV001722990	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000712172	SCV001750683	benign	not provided	2018-08-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730622	SCV001981311	benign	Reynolds syndrome	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000287243	SCV001981313	benign	Greenberg dysplasia	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730621	SCV001981314	benign	Pelger-Huët anomaly	2021-08-19	criteria provided, single submitter	clinical testing