Submissions for variant NM_000153.4(GALC):c.1350C>T (p.Ser450=)

gnomAD frequency: 0.39907  dbSNP: rs398076

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078191	SCV000110029	benign	not specified	2015-10-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078191	SCV000302707	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000277817	SCV000389245	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	RCV000277817	SCV001721919	benign	Galactosylceramide beta-galactosidase deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000277817	SCV001750168	benign	Galactosylceramide beta-galactosidase deficiency	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000675256	SCV001839509	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000277817	SCV000733407	benign	Galactosylceramide beta-galactosidase deficiency		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675256	SCV000800905	benign	not provided	2015-10-22	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078191	SCV001922205	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000078191	SCV001967187	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000277817	SCV002093628	benign	Galactosylceramide beta-galactosidase deficiency	2019-11-19	no assertion criteria provided	clinical testing