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
146 38 372 93 149 2 787

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SOS1 19 3 71 18 25 0 134
PTPN11 66 8 28 7 23 0 128
CBL 7 0 96 11 7 0 121
RAF1 13 6 64 15 13 0 108
BRAF 17 11 31 7 22 0 86
MAP2K2 2 3 31 12 26 1 74
SHOC2 1 0 17 9 9 0 35
KRAS 9 5 7 4 3 1 29
MAP2K1 3 1 10 5 9 0 28
HRAS, LRRC56 6 0 0 2 9 0 17
NRAS 2 0 9 1 1 0 13
MAP2K1, SNAPC5 0 0 5 1 2 0 8
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
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: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 113 23 361 49 5 0 551
ClinGen RASopathy Variant Curation Expert Panel 8 5 7 47 118 0 185
GeneDx 11 2 5 2 35 0 55
Baylor Genetics 33 1 2 0 12 0 48
Integrated Genetics/Laboratory Corporation of America 31 7 0 0 0 0 38
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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