Submissions for variant NM_000153.4(GALC):c.397T>C (p.Leu133=)

gnomAD frequency: 0.02565  dbSNP: rs56194647

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252951	SCV000302719	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000297415	SCV000389260	benign	Galactosylceramide beta-galactosidase deficiency	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.
Eurofins Ntd Llc (ga)	RCV000252951	SCV000700289	benign	not specified	2017-01-31	criteria provided, single submitter	clinical testing
Invitae	RCV000297415	SCV000752520	benign	Galactosylceramide beta-galactosidase deficiency	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001711524	SCV001940813	benign	not provided	2019-07-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000297415	SCV002798570	benign	Galactosylceramide beta-galactosidase deficiency	2021-10-13	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000297415	SCV001454074	benign	Galactosylceramide beta-galactosidase deficiency	2020-09-16	no assertion criteria provided	clinical testing