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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 Acute myeloid leukemia with NPM1 somatic mutations Astrocytoma IDH-mutant Oligodendroglioma |
Criteria Provided Multiple Submitters No Conflicts |
CA170874 |
rs_121913500 |
12 SubmittersRCV000144504RCV000853347RCV001269510RCV001542733RCV002227447RCV003387509RCV004668802RCV006253824RCV006253823RCV006253822 |
|
NM_001386298.1(CIC):c.3370C>T (p.Arg1124Trp)
|
SNV Germline/somatic |
Chr19:42287605 |
Likely pathogenic |
Intellectual disability, autosomal dominant 45 Anaplastic oligodendroglioma Neoplasm Oligodendroglioma |
No Assertion Criteria Provided |
CA406097759 |
rs_1568504941 |
4 SubmittersRCV004768647RCV004813136RCV005231330RCV006254155 |
|
NM_198253.3(TERT):c.-124C>T
|
SNV Germline/somatic |
Chr5:1295113 |
Conflicting classifications of pathogenicity |
Melanoma, cutaneous malignant, susceptibility to, 1 Condition: not provided not specified Malignant tumor of urinary bladder Dyskeratosis congenita, autosomal dominant 2 Neoplasm Sertoli-Leydig cell tumor oligodendroglioma, 1p 19q codeleted Desmoplastic small round cell tumor Malignant glioma Metastatic melanoma Medulloblastoma WNT activated Adenocarcinoma of the large intestine Medulloblastoma SHH activated Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Diffuse midline glioma, H3 K27M-mutant Juvenile type testicular granulosa cell tumor Calcifying nested epithelial stromal tumor of the liver Atypical teratoid rhabdoid tumor Neuroblastoma IDH-wildtype glioblastoma Hepatosplenic T-cell lymphoma Ovarian sex cord-stromal tumor Squamous cell carcinoma of the skin Pleomorphic xanthoastrocytoma |
Criteria Provided Conflicting Classifications |
CA557858711 |
rs_1242535815 |
9 SubmittersRCV001728078RCV002073409RCV002223145RCV003332346RCV003470881RCV004671424RCV006254295RCV006254297RCV006254286RCV006254288RCV006254291RCV006254292RCV006254293RCV006254294RCV006254289RCV006254290RCV006254296RCV006254298RCV006254287RCV006254283RCV006254299RCV006254300RCV006254301RCV006254284RCV006254285 |