ClinVar Miner

Variants studied for X-linked distal spinal muscular atrophy type 3

Included ClinVar conditions (3):
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 not provided total
63 82 485 876 136 1 1623

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 not provided total
ATP7A 62 82 479 874 134 1 1613
ATP7A, PGK1 0 0 3 2 2 0 6
ATP7A, ATRX, COX7B, MAGT1, PGAM4 1 0 1 0 0 0 2
ATP7A, ATRX, COX7B, MAGT1, PGAM4, PGK1 0 0 1 0 0 0 1
ATP7A, COX7B, MAGT1, PGAM4 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 54 15 466 864 136 0 1535
Myriad Genetics, Inc. 0 61 0 0 0 0 61
Natera, Inc. 3 0 6 3 7 0 19
Fulgent Genetics, Fulgent Genetics 0 1 6 4 2 0 13
3billion 0 0 0 8 0 0 8
Baylor Genetics 1 0 6 0 0 0 7
Mendelics 4 2 0 0 0 0 6
Genome-Nilou Lab 0 0 2 0 2 0 4
OMIM 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Clinical Genetics, CHU Rennes 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Chongqing Key Laboratory of Neurology, First Affiliated Hospital of Chongqing Medical University 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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