ClinVar Miner

Variants studied for Martsolf syndrome 1

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 not provided total
13 19 284 243 39 4 572

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 9 270 240 39 3 542
ARHGAP35 0 9 5 3 0 0 17
ARHGAP5 0 1 1 0 0 0 2
BPNT1, EPRS1, IARS2, MIR194-1, MIR215, RAB3GAP2, SLC30A10 0 0 2 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
FGFR1 0 0 1 0 0 0 1
IGSF10 0 0 1 0 0 0 1
RAB3GAP1 0 0 0 0 0 1 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
Labcorp Genetics (formerly Invitae), Labcorp 8 3 175 222 32 0 440
Illumina Laboratory Services, Illumina 0 0 103 20 16 0 139
Reproductive Endocrine Unit, Massachusetts General Hospital 1 12 12 3 0 0 28
Fulgent Genetics, Fulgent Genetics 0 0 5 0 0 0 5
OMIM 4 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
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
New York Genome Center 0 0 1 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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