Submissions for variant NM_020919.4(ALS2):c.4580+7G>A

gnomAD frequency: 0.17898  dbSNP: rs3219169

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242163	SCV000313691	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000391745	SCV000426283	benign	ALS2-related disorder	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	RCV000306834	SCV000426284	benign	Amyotrophic lateral sclerosis type 2, juvenile	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001660346	SCV000602472	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000242163	SCV001474745	benign	not specified	2019-09-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001509590	SCV001716405	benign	Infantile-onset ascending hereditary spastic paralysis	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000306834	SCV001769382	benign	Amyotrophic lateral sclerosis type 2, juvenile	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001549262	SCV001769383	benign	Juvenile primary lateral sclerosis	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001509590	SCV001769384	benign	Infantile-onset ascending hereditary spastic paralysis	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001660346	SCV001882011	benign	not provided	2018-07-06	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001660346	SCV005238064	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000242163	SCV001806852	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000242163	SCV001919518	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000242163	SCV001927876	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000242163	SCV001953347	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000242163	SCV001974945	benign	not specified		no assertion criteria provided	clinical testing