ClinVar Miner

Variants studied for Hepatic methionine adenosyltransferase deficiency

Coded as:
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Gene type:
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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
33 14 209 95 30 359

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MAT1A 32 13 176 89 21 309
LOC126860980, MAT1A 0 1 27 5 6 39
LOC111982876, MAT1A 0 0 5 1 3 9
ANXA11, MAT1A, PLAC9, SFTPD, TMEM254 1 0 1 0 0 2

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 26 5 132 88 13 264
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 2 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 3 0 0 6
Fulgent Genetics, Fulgent Genetics 2 0 3 0 0 5
TIDEX, University of British Columbia 0 0 2 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
3billion 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 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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