Submissions for variant NM_000153.4(GALC):c.60C>T (p.Ala20=)

gnomAD frequency: 0.00013  dbSNP: rs188488238

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000417623	SCV000522205	likely benign	not specified	2015-12-09	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	RCV000905927	SCV001050533	likely benign	Galactosylceramide beta-galactosidase deficiency	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001700177	SCV004130227	likely benign	not provided	2022-06-01	criteria provided, single submitter	clinical testing	GALC: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003970154	SCV004784323	likely benign	GALC-related condition	2019-08-28	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV001700177	SCV001917350	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001700177	SCV001966114	likely benign	not provided		no assertion criteria provided	clinical testing