ClinVar Miner

Variants studied for Rasopathy

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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
142 44 288 186 172 2 794

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CBL 7 0 81 35 22 0 143
PTPN11 66 8 20 14 23 0 123
SOS1 17 2 55 30 26 0 122
RAF1 12 7 41 29 13 0 94
BRAF 16 14 27 16 25 0 93
MAP2K2 1 3 25 28 27 1 79
SHOC2 1 0 15 10 10 0 35
KRAS 10 7 4 7 4 1 32
MAP2K1 3 2 10 8 9 0 31
HRAS, LRRC56 6 0 0 2 9 0 17
NRAS 3 0 6 4 2 0 15
MAP2K1, SNAPC5 0 0 2 2 2 0 6
ARHGEF33, ATL2, CYP1B1, DHX57, GALM, GEMIN6, HNRNPLL, MORN2, SOS1, SOS1-IT1, SRSF7 0 0 1 0 0 0 1
LZTR1 0 0 1 0 0 0 1
MRAS 0 1 0 0 0 0 1
SPRED1 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 94 20 276 145 80 0 615
ClinGen RASopathy Variant Curation Expert Panel, 8 5 7 47 121 0 188
GeneDx 11 1 7 1 35 0 55
Baylor Miraca Genetics Laboratories, 33 1 2 0 12 0 48
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 33 11 0 0 0 0 44
Integrated Genetics/Laboratory Corporation of America 29 8 0 0 0 0 37
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 1 0 0 1

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