Variants in gene B4GALT1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
4	0	71	42	20	129

Condition and significance breakdown #

Total conditions: 7

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Condition	pathogenic	uncertain significance	likely benign	benign	total
not provided	0	36	32	20	84
Inborn genetic diseases	0	29	2	0	31
Congenital disorder of glycosylation	0	11	2	0	13
B4GALT1-congenital disorder of glycosylation	3	5	2	2	11
not specified	0	3	4	3	10
B4GALT1-related disorder	0	0	9	0	9
Combined low LDL and fibrinogen	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	0	22	24	5	51
GeneDx	0	6	13	18	37
Ambry Genetics	0	29	2	0	31
Breakthrough Genomics, Breakthrough Genomics	0	3	5	9	17
Illumina Laboratory Services, Illumina	0	11	2	0	13
PreventionGenetics, part of Exact Sciences	0	0	9	0	9
Eurofins Ntd Llc (ga)	0	5	0	1	6
OMIM	4	0	0	0	4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	3	0	0	3
CeGaT Center for Human Genetics Tuebingen	0	0	3	0	3
Baylor Genetics	0	2	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	2	0	2
Genome-Nilou Lab	0	0	0	2	2
Revvity Omics, Revvity	0	1	0	0	1
Mendelics	0	1	0	0	1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	1	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	1

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