Submissions for variant NM_000153.4(GALC):c.1671-15C>T

gnomAD frequency: 0.45011  dbSNP: rs12432149

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078193	SCV000110031	benign	not specified	2013-04-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078193	SCV000302709	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000302125	SCV000389240	benign	Galactosylceramide beta-galactosidase deficiency	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.
Invitae	RCV000302125	SCV001721917	benign	Galactosylceramide beta-galactosidase deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000302125	SCV001737401	benign	Galactosylceramide beta-galactosidase deficiency	2021-06-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000675255	SCV001945805	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000302125	SCV000733406	benign	Galactosylceramide beta-galactosidase deficiency		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675255	SCV000800904	benign	not provided	2015-10-19	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078193	SCV001917367	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000078193	SCV001970830	benign	not specified		no assertion criteria provided	clinical testing