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St. Jude Molecular Pathology (St. Jude Children's Research Hospital), SJCRH-MP

General information

St. Jude Molecular Pathology, SJCRH-MP
St. Jude Children's Research Hospital
262 Danny Thomas Place
Memphis
Tennessee
United States - 38103
http://www.stjude.org
Organization ID: 506672

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1627

Gene

GeneSubmissionsLast Updated
ADA21Nov 28, 2023
AIP11Aug 30, 2023
ALK30Nov 28, 2023
AMER12Oct 7, 2022
ANKRD2622Nov 28, 2023
AOPEP10Aug 30, 2023
APC60Nov 28, 2023
ATM57Nov 28, 2023
AXIN211Nov 28, 2023
BAP19Mar 14, 2023
BARD114Nov 28, 2023
BLM27Nov 28, 2023
BMPR1A6Nov 28, 2023
BRAF5Oct 7, 2022
BRCA125Nov 28, 2023
BRCA256Nov 28, 2023
BRIP127Nov 28, 2023
BUB1B16Nov 28, 2023
BUB1B-PAK63Nov 28, 2023
C11orf6523Nov 28, 2023
CASP102Nov 28, 2023
CBL8Aug 30, 2023
CDC733Nov 28, 2023
CDH118Aug 30, 2023
CDK47Nov 28, 2023
CDKN1B6Nov 28, 2023
CDKN1C3Mar 14, 2023
CDKN2A10Nov 28, 2023
CEBPA8Nov 28, 2023
CHEK219Nov 28, 2023
CREBBP1Oct 7, 2020
CTR94Nov 28, 2023
DDX417Aug 30, 2023
DHFR2May 16, 2023
DHX341Nov 28, 2023
DICER130Nov 28, 2023
DIS3L21Oct 7, 2020
DKC14Nov 28, 2023
EFL11Aug 30, 2023
ELP130Nov 28, 2023
EPCAM10Aug 30, 2023
ERCC22Dec 4, 2018
ERCC427Nov 28, 2023
ERCC63Aug 7, 2021
ETV63Jun 10, 2022
EXT17Aug 30, 2023
EXT218Nov 28, 2023
FANCA51Nov 28, 2023
FANCC15Aug 30, 2023
FANCD21Nov 28, 2023
FANCG11Nov 28, 2023
FANCM2Dec 4, 2018
FH12Nov 28, 2023
FLCN12Nov 28, 2023
GATA26Nov 28, 2023
GPR1619Nov 28, 2023
GREM12Oct 7, 2022
HRAS3Nov 28, 2023
IKZF18Aug 30, 2023
INSL61Nov 28, 2023
JAK21Nov 28, 2023
KIF1B21Nov 28, 2023
KIT11Nov 28, 2023
KRAS2Jun 15, 2021
LIG41Dec 4, 2018
LOC1005073464Aug 30, 2023
LOC1053760322Aug 30, 2023
LOC1073033381Nov 28, 2023
LOC1073033404Nov 28, 2023
LOC1079822346Oct 7, 2022
LOC1100112162Aug 30, 2023
LOC1118119651Aug 30, 2023
LOC1124862233Oct 7, 2022
LOC1268070541May 16, 2023
LOC1268602021Jul 26, 2021
LOC1268604381Nov 3, 2021
LOC1268614521Jun 15, 2021
LOC1268625714Aug 30, 2023
LOC1293884461Dec 10, 2021
LOC1293909031Mar 14, 2023
LOC1299295421Jun 23, 2021
LOC1299335352Jun 10, 2022
LOC1299343334Mar 14, 2023
LOC1299993031Oct 7, 2020
LOC1300014113Nov 28, 2023
LOC1300021333Nov 3, 2021
LOC1300035541Oct 7, 2022
LOC1300037101Nov 3, 2021
LOC1300046141Oct 7, 2022
LOC1300062061Mar 14, 2023
LOC1300585432Mar 14, 2023
LOC1300598372Nov 28, 2023
LOC1300628993May 16, 2023
LOC1300631931Oct 7, 2020
LOC1300652392Mar 14, 2023
LOC1300670162May 16, 2023
LRRC563Nov 28, 2023
LZTR115Nov 28, 2023
MAP2K13Aug 30, 2023
MAP2K28Nov 28, 2023
MAX2Aug 19, 2021
MEN13Oct 7, 2022
MET20Nov 28, 2023
MIR4733HG1Aug 30, 2023
MITF7May 24, 2023
MLH117Nov 28, 2023
MSH227Nov 28, 2023
MSH323Nov 28, 2023
MSH636Nov 28, 2023
MUTYH21Nov 28, 2023
MYH92Nov 28, 2023
MYSM11May 16, 2023
NBN13Nov 28, 2023
NF130Nov 28, 2023
NF24May 16, 2023
NTHL113Aug 30, 2023
PALB217Nov 28, 2023
PAX59Aug 30, 2023
PDGFRA13Nov 28, 2023
PHOX2B5Aug 30, 2023
PIK3CD1Nov 28, 2023
PMS223Nov 28, 2023
POLD118Nov 28, 2023
POLE54Nov 28, 2023
POT19Nov 28, 2023
PRKAR1A1Nov 3, 2021
PRKCD1Nov 28, 2023
PTCH124Nov 28, 2023
PTCH220Nov 28, 2023
PTEN2Aug 30, 2023
PTPN117Nov 28, 2023
RAD501Oct 7, 2020
RAD51C8Nov 28, 2023
RAD51D3Nov 28, 2023
RAD51L3-RFFL3Nov 28, 2023
RAF16Mar 14, 2023
RB132Nov 28, 2023
RECQL452Nov 28, 2023
REST8Mar 14, 2023
RET30Nov 28, 2023
RIT11Oct 7, 2022
RRAS3Nov 28, 2023
RUNX16Nov 28, 2023
SAMD917Nov 28, 2023
SAMD9L19Nov 28, 2023
SDHA11Aug 30, 2023
SDHAF22Nov 28, 2023
SDHB6Mar 14, 2023
SDHC1Jun 10, 2022
SDHD5Aug 30, 2023
SH2D1A1Oct 7, 2022
SHOC24Nov 28, 2023
SLX45Aug 30, 2023
SMAD42Dec 10, 2021
SMARCA417Nov 28, 2023
SMARCB13Aug 30, 2023
SMARCE11Nov 28, 2023
SMO1Oct 7, 2020
SNAPC51Oct 7, 2020
SOS117Nov 28, 2023
SOS28May 16, 2023
SPRED14Aug 30, 2023
STAT5B1Nov 28, 2023
STK1112Nov 28, 2023
SUFU6Aug 30, 2023
TCIRG11Aug 30, 2023
TERC1Mar 14, 2023
TERT9Aug 30, 2023
TMEM1277Mar 14, 2023
TP5316Nov 28, 2023
TRIM2810Nov 28, 2023
TSC113Nov 28, 2023
TSC226Nov 28, 2023
TSPAN315Nov 28, 2023
VHL6Nov 28, 2023
VPS13B2Nov 28, 2023
WAS1Oct 7, 2020
WRN1Aug 9, 2018
WT112Aug 30, 2023
ZNF27610Nov 28, 2023

Condition

NameSubmissionsLast Updated
Acute leukemia of ambiguous lineage1Aug 9, 2018
Acute lymphoid leukemia7Aug 30, 2023
Acute monoblastic leukemia1Dec 4, 2018
Acute monocytic leukemia1Dec 4, 2018
Acute myeloid leukemia11Nov 28, 2023
Acute promyelocytic leukemia1Dec 4, 2018
Anaplastic ependymoma2Dec 4, 2018
Astrocytoma, anaplastic1Aug 9, 2018
Ataxia-pancytopenia syndrome13Aug 30, 2023
Ataxia-telangiectasia syndrome25Aug 30, 2023
Atypical teratoid rhabdoid tumor1Dec 4, 2018
Autoimmune lymphoproliferative syndrome type 2A2Nov 28, 2023
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD1Nov 28, 2023
B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL11Dec 4, 2018
B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged1Dec 4, 2018
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified4Dec 4, 2018
B lymphoblastic leukemia lymphoma with hyperdiploidy1Dec 4, 2018
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)4Dec 4, 2018
B lymphoblastic leukemia lymphoma, no ICD-O subtype2Aug 9, 2018
B-lymphoblastic leukemia/lymphoma with hypodiploidy1Dec 4, 2018
BAP1-related tumor predisposition syndrome6Mar 14, 2023
Beckwith-Wiedemann syndrome3Mar 14, 2023
Birt-Hogg-Dube syndrome11Nov 28, 2023
Bloom syndrome27Nov 28, 2023
Bone marrow failure syndrome 41May 16, 2023
Breast-ovarian cancer, familial, susceptibility to, 114Nov 28, 2023
Breast-ovarian cancer, familial, susceptibility to, 228Nov 28, 2023
Breast-ovarian cancer, familial, susceptibility to, 38Nov 28, 2023
Breast-ovarian cancer, familial, susceptibility to, 43Nov 28, 2023
Breast-ovarian cancer, familial, susceptibility to, 51Nov 28, 2023
Burkitt lymphoma1Aug 9, 2018
CBL-related disorder6Aug 30, 2023
Cardio-facio-cutaneous syndrome1Jun 15, 2021
Cardiofaciocutaneous syndrome 32Aug 30, 2023
Cardiofaciocutaneous syndrome 45Nov 28, 2023
Carney complex, type 11Nov 3, 2021
Cockayne syndrome2Oct 7, 2020
Cockayne syndrome type 21Aug 7, 2021
Coffin-Siris syndrome 51Nov 28, 2023
Cohen syndrome2Nov 28, 2023
Colorectal cancer, hereditary nonpolyposis, type 215Nov 28, 2023
Colorectal cancer, susceptibility to, 1018Nov 28, 2023
Colorectal cancer, susceptibility to, 1254Nov 28, 2023
Congenital fibrosarcoma2Jan 31, 2023
Costello syndrome3Nov 28, 2023
Cowden syndrome 11Aug 30, 2023
Craniopharyngioma8Dec 4, 2018
DDX41-related hematologic malignancy predisposition syndrome7Aug 30, 2023
DHX34-associated thromobocytopenia1Nov 28, 2023
DICER1-related tumor predisposition14Dec 10, 2021
Desmoid tumor1Aug 9, 2018
Diffuse intrinsic pontine glioma3Dec 4, 2018
Dyskeratosis congenita2Nov 3, 2021
Dyskeratosis congenita, X-linked4Nov 28, 2023
Dyskeratosis congenita, autosomal dominant 11Mar 14, 2023
Dyskeratosis congenita, autosomal dominant 27Aug 30, 2023
Embryonal rhabdomyosarcoma1Dec 4, 2018
Ependymoma1Dec 4, 2018
Ewing sarcoma2Dec 4, 2018
Ewing sarcoma of soft tissue1Dec 4, 2018
Exostoses, multiple, type 16Aug 30, 2023
Exostoses, multiple, type 213Nov 28, 2023
Familial adenomatous polyposis 157Nov 28, 2023
Familial adenomatous polyposis 218Nov 28, 2023
Familial adenomatous polyposis 313Aug 30, 2023
Familial adenomatous polyposis 423Nov 28, 2023
Familial cancer of breast67Nov 28, 2023
Familial isolated pituitary adenoma18Nov 3, 2021
Familial melanoma2Dec 10, 2021
Familial multiple polyposis syndrome1Jun 21, 2021
Fanconi anemia22Jun 10, 2022
Fanconi anemia complementation group A35Nov 28, 2023
Fanconi anemia complementation group C12Aug 30, 2023
Fanconi anemia complementation group D21Nov 28, 2023
Fanconi anemia complementation group G9Nov 28, 2023
Fanconi anemia complementation group J5Oct 7, 2022
Fanconi anemia complementation group N1Nov 28, 2023
Fanconi anemia complementation group P3Aug 30, 2023
Fanconi anemia complementation group Q13Nov 28, 2023
GATA2 deficiency with susceptibility to MDS/AML2May 16, 2023
Ganglioglioma1Dec 4, 2018
Gastric adenocarcinoma and proximal polyposis of the stomach1Aug 30, 2023
Gastrointestinal stromal tumor11Nov 28, 2023
Generalized juvenile polyposis/juvenile polyposis coli3Dec 10, 2021
Germinoma1Dec 4, 2018
Glioblastoma2Aug 9, 2018
Glioblastoma multiforme1Dec 4, 2018
Gorlin syndrome38Nov 28, 2023
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1Nov 28, 2023
Hepatoblastoma1Dec 4, 2018
Hereditary breast ovarian cancer syndrome43Jun 10, 2022
Hereditary diffuse gastric adenocarcinoma18Aug 30, 2023
Hereditary leiomyomatosis and renal cell cancer11Nov 28, 2023
Hereditary mixed polyposis syndrome2Oct 7, 2022
Hereditary papillary renal cell carcinoma1Jun 21, 2021
Hereditary pheochromocytoma-paraganglioma8Jun 10, 2022
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX15Nov 28, 2023
High grade surface osteosarcoma1Dec 4, 2018
Hyperparathyroidism 2 with jaw tumors3Nov 28, 2023
Immunodeficiency 141Nov 28, 2023
Increased risk to develop myelodysplastic syndrome, acute myeloid leukemia, or chronic myelomonocytic leukemia1Mar 14, 2023
Juvenile polyposis syndrome3Nov 28, 2023
Legius syndrome4Aug 30, 2023
Leukemia, acute lymphoblastic, susceptibility to, 39Aug 30, 2023
Li-Fraumeni syndrome3Oct 7, 2020
Li-Fraumeni syndrome 111Nov 28, 2023
Lymphoma2Aug 9, 2018
Lynch syndrome31Dec 15, 2020
Lynch syndrome 115Nov 28, 2023
Lynch syndrome 416Nov 28, 2023
Lynch syndrome 522Nov 28, 2023
Lynch syndrome 810Aug 30, 2023
MIRAGE syndrome12Nov 28, 2023
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss2Nov 28, 2023
Malignant fibrous histiocytoma1Dec 4, 2018
Malignant germ cell tumor of ovary2Aug 9, 2018
Malignant glioma1Dec 4, 2018
Medulloblastoma43Nov 28, 2023
Melanoma, cutaneous malignant, susceptibility to, 34Nov 28, 2023
Melanoma, cutaneous malignant, susceptibility to, 87May 24, 2023
Melanoma-pancreatic cancer syndrome8Nov 28, 2023
Microcephaly, normal intelligence and immunodeficiency13Nov 28, 2023
Mixed Phenotype Acute Leukemia with t(v;11q23.3); KMT2A Rearranged1Dec 4, 2018
Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified1Dec 4, 2018
Monosomy 7 myelodysplasia and leukemia syndrome 16Nov 28, 2023
Monosomy 7 myelodysplasia and leukemia syndrome 25May 16, 2023
Mosaic variegated aneuploidy syndrome5Nov 3, 2021
Mosaic variegated aneuploidy syndrome 111Nov 28, 2023
Multiple congenital exostosis6Jun 10, 2022
Multiple endocrine neoplasia type 46Nov 28, 2023
Multiple endocrine neoplasia, type 12Oct 7, 2022
Multiple endocrine neoplasia, type 26Dec 10, 2021
Multiple endocrine neoplasia, type 2a20Nov 28, 2023
Myelodysplastic syndrome2Nov 28, 2023
Nephroblastoma2Dec 4, 2018
Neuroblastoma5Dec 4, 2018
Neuroblastoma, susceptibility to, 13Aug 30, 2023
Neuroblastoma, susceptibility to, 24Aug 30, 2023
Neuroblastoma, susceptibility to, 318Nov 28, 2023
Neurofibromatosis, type 122Nov 28, 2023
Neurofibromatosis, type 24May 16, 2023
Neutropenia, severe congenital, 1, autosomal dominant1Aug 30, 2023
Nijmegen breakage syndrome-like disorder1Oct 7, 2020
Noonan syndrome29Nov 28, 2023
Noonan syndrome 12Nov 28, 2023
Noonan syndrome 1014Nov 28, 2023
Noonan syndrome 48Nov 28, 2023
Noonan syndrome 51Mar 14, 2023
Noonan syndrome 73Oct 7, 2022
Noonan syndrome 81Oct 7, 2022
Noonan syndrome 98May 16, 2023
Noonan syndrome-like disorder with loose anagen hair 13Nov 28, 2023
Oligodontia-cancer predisposition syndrome11Nov 28, 2023
Optic nerve glioma2Aug 9, 2018
Osteoblastic osteosarcoma1Dec 4, 2018
Osteopathia striata with cranial sclerosis2Oct 7, 2022
PTEN hamartoma tumor syndrome1Jun 21, 2021
Pancytopenia due to IKZF1 mutations1Mar 14, 2023
Papillary renal cell carcinoma type 119Nov 28, 2023
Papillary thyroid carcinoma2Dec 4, 2018
Paragangliomas 13Aug 30, 2023
Paragangliomas 22Nov 28, 2023
Paragangliomas 31Jun 10, 2022
Paragangliomas 42Mar 14, 2023
Paragangliomas 59Aug 30, 2023
Perlman syndrome1Oct 7, 2020
Peutz-Jeghers syndrome9Nov 28, 2023
Pheochromocytoma21Nov 28, 2023
Pilocytic astrocytoma5Dec 4, 2018
Pituitary carcinoma1Aug 9, 2018
Pleomorphic xanthoastrocytoma1Aug 9, 2018
Pleuropulmonary blastoma16Nov 28, 2023
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal12Nov 28, 2023
Precursor B-cell acute lymphoblastic leukemia4Aug 9, 2018
Predisposition to Wilms tumor6Nov 28, 2023
Predisposition to cancer19Nov 28, 2023
Predisposition to medulloblastoma1Oct 7, 2022
Predisposition to myelodysplastic syndrome1Nov 28, 2023
Predisposition to neuroblastoma1Jun 21, 2021
Primitive neuroectodermal tumor1Dec 4, 2018
Retinoblastoma38Nov 28, 2023
Rhabdoid tumor predisposition syndrome 11Aug 30, 2023
Rhabdoid tumor predisposition syndrome 218Nov 28, 2023
Rothmund-Thomson syndrome1Oct 7, 2020
Rothmund-Thomson syndrome type 248Nov 28, 2023
Rubinstein-Taybi syndrome due to CREBBP mutations1Oct 7, 2020
Schwannomatosis 21Oct 7, 2022
Shwachman-Diamond syndrome 21Aug 30, 2023
Somatotroph adenoma5Aug 30, 2023
Thrombocythemia 31Nov 28, 2023
Thrombocytopenia 222Nov 28, 2023
Thrombocytopenia 53Jun 10, 2022
Tuberous sclerosis 16Nov 28, 2023
Tuberous sclerosis 216Nov 28, 2023
Tuberous sclerosis syndrome12Nov 3, 2021
Tumor predisposition syndrome 39Nov 28, 2023
Uveal melanoma1Dec 4, 2018
Vasculitis due to ADA2 deficiency1Nov 28, 2023
Von Hippel-Lindau syndrome5Nov 28, 2023
Wilms tumor 117Nov 28, 2023
Wilms tumor 68Mar 14, 2023
Wiskott-Aldrich syndrome1Oct 7, 2020
X-linked lymphoproliferative disease due to SH2D1A deficiency1Oct 7, 2022
Xeroderma pigmentosum, group F14Aug 30, 2023
not specified1Oct 7, 2020