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
196 51 606 224 183 4 1193

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SOS1 24 3 119 39 30 0 202
CBL 8 0 135 36 22 0 199
RAF1 18 7 122 34 18 0 185
PTPN11 78 11 45 22 23 0 165
BRAF 27 13 50 18 23 1 122
MAP2K2 3 4 55 33 27 1 115
MAP2K1 9 1 18 14 10 1 49
SHOC2 1 0 28 11 9 0 48
KRAS 12 6 10 7 5 1 37
NRAS 3 0 13 5 2 0 23
HRAS, LRRC56 6 0 1 2 10 0 19
MAP2K1, SNAPC5 0 0 7 2 3 0 11
RIT1 5 0 0 0 0 0 5
LZTR1 1 2 1 0 0 0 4
NF1 0 3 0 0 0 0 3
ABCG4, C2CD2L, CBL, CCDC153, DPAGT1, HINFP, NLRX1, PDZD3 0 0 1 0 0 0 1
ARHGEF33, ATL2, CYP1B1, DHX57, GALM, GEMIN6, HNRNPLL, MORN2, SOS1, SOS1-IT1, SRSF7 0 0 1 0 0 0 1
BBIP1, LOC111875823, LOC116216121, MIR4680, MIR548E, PDCD4, RBM20, SHOC2, SMC3 1 0 0 0 0 0 1
MRAS 0 1 0 0 0 0 1
PTPN11, RPL6 0 0 0 0 1 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 146 22 588 179 99 0 1034
ClinGen RASopathy Variant Curation Expert Panel 25 10 26 59 126 0 246
Integrated Genetics/Laboratory Corporation of America 50 16 0 0 0 0 66
GeneDx 11 2 5 2 35 0 55
Baylor Genetics 33 1 2 0 12 0 48
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
GenomeConnect - CFC International 0 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 1 0 0 1

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