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 8 138 118 27 286

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 4 115 112 17 238
ADK 2 3 22 5 8 39
ADK, LOC102723439 1 1 0 1 2 4
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: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 6 1 80 108 13 208
Illumina Laboratory Services, Illumina 0 0 52 10 11 73
OMIM 12 0 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 3 4
Fulgent Genetics, Fulgent Genetics 0 1 2 0 1 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
3billion 0 0 1 0 0 1
DASA 1 0 0 0 0 1

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