ClinVar Miner

Variants studied for Martsolf syndrome

Included ClinVar conditions (6):
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
16 18 279 219 41 4 547

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RAB3GAP2 11 8 263 216 39 3 511
ARHGAP35 0 9 5 3 0 0 17
RAB3GAP1 3 0 3 0 2 1 8
ARHGAP5 0 1 1 0 0 0 2
KLB 0 0 2 0 0 0 2
ANOS1 1 0 0 0 0 0 1
BPNT1, C1orf115, EPRS1, IARS2, LYPLAL1, MARK1, MIR194-1, MIR215, MTARC1, MTARC2, RAB3GAP2, SLC30A10, TGFB2 1 0 0 0 0 0 1
BPNT1, EPRS1, IARS2, MIR194-1, MIR215, RAB3GAP2, SLC30A10 0 0 1 0 0 0 1
FGFR1 0 0 1 0 0 0 1
IGSF10 0 0 1 0 0 0 1
SEMA3A 0 0 1 0 0 0 1
TUBB3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 8 2 171 198 32 0 411
Illumina Laboratory Services, Illumina 0 0 103 20 16 0 139
Reproductive Endocrine Unit, Massachusetts General Hospital 1 12 12 3 0 0 28
OMIM 6 0 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 1 0 4 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Baylor Genetics 2 0 1 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1
3billion 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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