Submissions for variant NM_133642.5(LARGE1):c.435C>T (p.Ala145=)

gnomAD frequency: 0.39804  dbSNP: rs86487

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081181	SCV000113089	benign	not specified	2012-09-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081181	SCV000310646	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000333062	SCV000438172	benign	Muscular dystrophy-dystroglycanopathy type B6	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	RCV000373679	SCV000438173	benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	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.
Athena Diagnostics	RCV000712204	SCV000842641	benign	not provided	2018-05-07	criteria provided, single submitter	clinical testing
Invitae	RCV000333062	SCV001717339	benign	Muscular dystrophy-dystroglycanopathy type B6	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000712204	SCV001839210	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081181	SCV000193515	likely benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000081181	SCV001743234	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000081181	SCV001957507	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000081181	SCV001967874	benign	not specified		no assertion criteria provided	clinical testing