Submissions for variant NM_000153.4(GALC):c.329-10_329-8del

dbSNP: rs770389075

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000276205	SCV000389262	uncertain significance	Galactosylceramide beta-galactosidase deficiency	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000611455	SCV000727872	likely benign	not specified	2018-02-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000276205	SCV001005420	likely benign	Galactosylceramide beta-galactosidase deficiency	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000864600	SCV001149291	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	GALC: BP4
Natera, Inc.	RCV000276205	SCV001461646	uncertain significance	Galactosylceramide beta-galactosidase deficiency	2020-04-18	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000864600	SCV001923148	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000864600	SCV001966659	likely benign	not provided		no assertion criteria provided	clinical testing