ClinVar Miner

Variants from Department of Pediatrics, Memorial Sloan Kettering Cancer Center

Location: United States  Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 total
71 22 0 0 0 93

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic total
RB1 20 4 24
NF1 7 0 7
TP53 4 2 6
SDHA 4 1 5
BRCA2 4 0 4
RECQL4 2 2 4
PMS2 2 1 3
BRCA1 2 0 2
CDKN2A 1 1 2
ERCC3 1 1 2
FANCA, LOC130059837 0 2 2
FANCC 2 0 2
MLH1 1 1 2
MUTYH 2 0 2
NF2 2 0 2
PALB2 1 1 2
SDHB 2 0 2
​intergenic 1 0 1
ALK 1 0 1
ATM, C11orf65 1 0 1
CHEK2 1 0 1
DICER1 1 0 1
FANCA, ZNF276 0 1 1
LOC107303340, VHL 1 0 1
LOC130004614, SUFU 1 0 1
MSH2 1 0 1
MSH3 0 1 1
MSH6 1 0 1
NBN 1 0 1
PHOX2B 1 0 1
PTEN 0 1 1
RB1, RB1-DT 0 1 1
RET 1 0 1
SDHC 0 1 1
SDHD 1 0 1
SMARCA4 0 1 1
SMARCB1 1 0 1

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic total
Retinoblastoma 20 5 25
Familial cancer of breast 7 1 8
Neurofibromatosis, type 1 7 0 7
Li-Fraumeni syndrome 1 4 2 6
Paragangliomas 5 4 1 5
Rothmund-Thomson syndrome type 2 2 2 4
Fanconi anemia complementation group A 0 3 3
Mismatch repair cancer syndrome 4 2 1 3
Breast-ovarian cancer, familial, susceptibility to, 2 2 0 2
Colorectal cancer, hereditary nonpolyposis, type 2 1 1 2
Familial adenomatous polyposis 2 2 0 2
Fanconi anemia complementation group C 2 0 2
Melanoma-pancreatic cancer syndrome 1 1 2
Neurofibromatosis, type 2 2 0 2
Paragangliomas 4 2 0 2
Xeroderma pigmentosum group B 1 1 2
Acute myeloid leukemia 1 0 1
Congenital central hypoventilation 1 0 1
Cowden syndrome 1 0 1 1
Familial adenomatous polyposis 4 0 1 1
Gastrointestinal stromal tumor 0 1 1
Lynch syndrome 1 1 0 1
Lynch syndrome 5 1 0 1
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 1 0 1
Medulloblastoma 1 0 1
Microcephaly, normal intelligence and immunodeficiency 1 0 1
Neuroblastoma, susceptibility to, 3 1 0 1
Pheochromocytoma 1 0 1
Rhabdoid tumor predisposition syndrome 1 1 0 1
Rhabdoid tumor predisposition syndrome 2 0 1 1
Rhabdomyosarcoma, embryonal, 2 1 0 1
Von Hippel-Lindau syndrome 1 0 1

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