Submissions for variant NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln)

gnomAD frequency: 0.03176  dbSNP: rs41265017

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174949	SCV000226355	benign	not specified	2014-09-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000174949	SCV000314037	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000283665	SCV000349002	likely benign	Cone-rod dystrophy 10	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000338889	SCV000349003	likely benign	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000174949	SCV000540313	benign	not specified	2016-04-25	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: Frequency in ESP (all): 451/13006=3.4%
GeneDx	RCV000835007	SCV000976780	benign	not provided	2018-05-25	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000835007	SCV001159085	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001095930	SCV001252109	likely benign	Retinitis pigmentosa	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000835007	SCV001716542	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000283665	SCV004048617	likely benign	Cone-rod dystrophy 10	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000003528	SCV004048618	likely benign	Retinitis pigmentosa 35	2023-04-11	criteria provided, single submitter	clinical testing
OMIM	RCV000003528	SCV000023686	uncertain significance	Retinitis pigmentosa 35	2013-01-01	no assertion criteria provided	literature only
Clinical Genetics, Academic Medical Center	RCV000174949	SCV001920443	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000174949	SCV001930291	benign	not specified		no assertion criteria provided	clinical testing