Submissions for variant NM_000155.4(GALT):c.652C>T (p.Leu218=)

gnomAD frequency: 0.02537  dbSNP: rs2070075

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000032587	SCV000052472	benign	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Benign.
Eurofins Ntd Llc (ga)	RCV000078233	SCV000110071	other	not provided	2015-02-05	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000078233	SCV000281539	benign	not provided	2015-02-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000032587	SCV000479763	benign	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2018-03-06	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	RCV000032587	SCV000631395	benign	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000032587	SCV000885499	benign	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2023-11-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000032587	SCV001623031	benign	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000078233	SCV001988713	benign	not provided	2021-07-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000032587	SCV002805435	benign	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2021-07-19	criteria provided, single submitter	clinical testing
GeneReviews	RCV000032587	SCV000257444	benign	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	2014-09-23	no assertion criteria provided	literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701572	SCV001930366	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001701572	SCV001952222	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001826537	SCV002085227	likely benign	Galactosemia	2017-03-29	no assertion criteria provided	clinical testing