ClinVar Miner

Variants studied for disorder of methionine catabolism

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
15 20 140 143 27 324

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AHCY 8 13 115 137 17 271
ADK 2 5 24 5 8 43
ADK, LOC102723439 1 2 0 1 2 5
CNPY3-GNMT, GNMT 3 0 1 0 0 4
ACTL10, AHCY, ASIP, BPIFA1, BPIFA2, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, C20orf144, CBFA2T2, CDK5RAP1, CHMP4B, E2F1, EIF2S2, ITCH, NECAB3, PXMP4, RALY, SNTA1, SUN5, ZNF341 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 6 2 80 133 13 234
Illumina Laboratory Services, Illumina 0 0 52 10 11 73
Fulgent Genetics, Fulgent Genetics 0 12 3 0 1 16
OMIM 12 0 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 3 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 4 0 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 3
Genome-Nilou Lab 0 0 0 0 3 3
Mendelics 0 1 0 0 1 2
Baylor Genetics 0 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
3billion, Medical Genetics 0 0 1 0 0 1
DASA 1 0 0 0 0 1

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