Submissions for variant NM_020919.4(ALS2):c.20+7T>C

gnomAD frequency: 0.16113  dbSNP: rs3219153

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243518	SCV000313680	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000399186	SCV000426340	benign	ALS2-related disorder	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.
Illumina Laboratory Services, Illumina	RCV000302011	SCV000426341	benign	Amyotrophic lateral sclerosis type 2, juvenile	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.
Athena Diagnostics	RCV000243518	SCV001476899	benign	not specified	2019-09-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001509594	SCV001716409	benign	Infantile-onset ascending hereditary spastic paralysis	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000302011	SCV001768880	benign	Amyotrophic lateral sclerosis type 2, juvenile	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001548882	SCV001768881	benign	Juvenile primary lateral sclerosis	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001509594	SCV001768882	benign	Infantile-onset ascending hereditary spastic paralysis	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001610719	SCV001836372	benign	not provided	2018-07-06	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001610719	SCV005240271	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000243518	SCV001807507	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000243518	SCV001920539	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000243518	SCV001953471	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000243518	SCV001969346	benign	not specified		no assertion criteria provided	clinical testing