Variants studied for Hepatic methionine adenosyltransferase deficiency

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
26	7	193	80	29	319

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
MAT1A	26	7	161	74	20	272
LOC126860980, MAT1A	0	0	27	5	6	38
LOC111982876, MAT1A	0	0	5	1	3	9

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	20	5	116	73	12	226
Illumina Laboratory Services, Illumina	0	0	64	7	25	96
Laboratory of Metabolic Disorders, Peking University First Hospital	0	1	10	0	0	11
OMIM	10	0	0	0	0	10
Revvity Omics, Revvity	2	0	4	0	0	6
Fulgent Genetics, Fulgent Genetics	2	0	3	0	0	5
TIDEX, University of British Columbia	0	0	2	0	0	2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	1	0	0	0	0	1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	0	0	1	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	0	1	0	0	0	1
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital	1	0	0	0	0	1

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