ClinVar Miner

Variants in gene GAMT

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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
12 10 97 54 17 169

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cerebral creatine deficiency syndrome 5 1 56 16 4 82
not specified 0 0 10 41 12 59
not provided 4 7 37 1 3 51
Deficiency of guanidinoacetate methyltransferase 9 1 14 2 3 29
History of neurodevelopmental disorder 0 1 11 6 2 20

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 4 6 37 40 15 102
Invitae 5 1 56 16 4 82
Ambry Genetics 0 1 11 6 2 20
Illumina Clinical Services Laboratory,Illumina 4 0 10 2 0 16
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 5 2 2 9
OMIM 5 0 0 0 0 5
GeneReviews 3 0 0 0 2 5
Athena Diagnostics Inc 0 0 4 0 0 4
Integrated Genetics/Laboratory Corporation of America 4 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 2 0 2 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 4 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 3 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 1
PreventionGenetics 0 0 0 1 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 1

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