NM_005896.4(IDH1):c.395G>A (p.Arg132His)
|
SNV Germline/somatic |
Chr2:208248388 |
Pathogenic/Likely pathogenic |
Glioblastoma multiforme, somatic Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Condition: not provided Glioma susceptibility 1 Enchondromatosis Metaphyseal chondromatosis Neoplasm |
Criteria Provided Multiple Submitters No Conflicts |
CA170874 |
rs_121913500 |
10 SubmittersRCV000144504RCV000853347RCV001269510RCV001542733RCV002227447RCV003387509RCV004668802 |
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)
|
SNV Germline |
Chr11:108345859 |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia syndrome Glioblastoma Condition: not provided Familial cancer of breast |
Criteria Provided Multiple Submitters No Conflicts |
|
rs_1555138291 |
6 SubmittersRCV000671076RCV000722036RCV000991563RCV003465507 |
NM_022552.5(DNMT3A):c.2710C>T (p.Pro904Ser)
|
SNV Somatic |
Chr2:25234308 |
Likely pathogenic |
Glioblastoma |
No Assertion Criteria Provided |
|
rs_1558650888 |
1 SubmittersRCV000785978 |