Submissions for variant NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln)

gnomAD frequency: 0.00170  dbSNP: rs2075164

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174592	SCV000225914	benign	not specified	2015-02-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000369948	SCV000348992	benign	Cone-rod dystrophy 10	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.
Illumina Laboratory Services, Illumina	RCV000275357	SCV000348993	likely benign	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000174592	SCV000803511	benign	not specified	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Benign - Stand Alone. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
Invitae	RCV000889429	SCV001033109	benign	not provided	2024-01-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001097620	SCV001253916	benign	Retinitis pigmentosa	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.
Genome-Nilou Lab	RCV000369948	SCV004048596	likely benign	Cone-rod dystrophy 10	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003338445	SCV004048597	likely benign	Retinitis pigmentosa 35	2023-04-11	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888620	SCV004707699	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research