ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease axonal type 2U

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
4 1 474 307 30 1 813

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MARS1 4 1 448 290 29 1 769
ARHGAP9, MARS1 0 0 21 12 1 0 34
MARS1, MIR6758 0 0 2 5 0 0 7
AGAP2, APOF, ARHGAP9, ARHGEF25, ATP5F1B, B4GALNT1, BAZ2A, CDK4, CYP27B1, DCTN2, DDIT3, DTX3, EEF1AKMT3, GLI1, GLS2, GPR182, HSD17B6, IL23A, INHBC, INHBE, KIF5A, LRP1, MARCHF9, MARS1, MBD6, METTL1, MIP, MIR616, MYO1A, NAB2, NACA, NDUFA4L2, NEMP1, NXPH4, OS9, PAN2, PIP4K2C, PRIM1, PTGES3, R3HDM2, RBMS2, RDH16, SDR9C7, SHMT2, SPRYD4, STAC3, STAT2, STAT6, TAC3, TIMELESS, TSFM, TSPAN31, ZBTB39 0 0 1 0 0 0 1
DCTN2, DDIT3, KIF5A, MARS1, MBD6, MIR616 0 0 1 0 0 0 1
POLG 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 467 307 30 0 804
Baylor Genetics 0 0 2 0 0 0 2
OMIM 2 0 0 0 0 0 2
Paris Brain Institute, Inserm - ICM 2 0 0 0 0 0 2
3billion 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Care4Rare-SOLVE, CHEO 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Genetics Department, Catlab 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1

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