ClinVar Miner

Variants from Department of Pediatrics, Memorial Sloan Kettering Cancer Center with conflicting interpretations

Location: United States  Primary collection method: research
Minimum review status of the submission from Department of Pediatrics, Memorial Sloan Kettering Cancer Center: Collection method of the submission from Department of Pediatrics, Memorial Sloan Kettering Cancer Center:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
37 30 0 20 0 1 5 26

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Department of Pediatrics, Memorial Sloan Kettering Cancer Center pathogenic likely pathogenic uncertain significance benign risk factor
pathogenic 0 16 2 0 1
likely pathogenic 4 0 3 1 0

Submitter to submitter summary #

Total submitters: 16
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Invitae 0 27 0 3 0 0 3 6
Counsyl 0 6 0 5 0 0 0 5
Myriad Genetics, Inc. 0 15 0 4 0 0 0 4
Database of Curated Mutations (DoCM) 0 0 0 3 0 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 2 0 1 0 0 2 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 7 0 2 0 0 0 2
Illumina Laboratory Services, Illumina 0 1 0 1 0 0 1 2
OMIM 0 11 0 0 0 1 0 1
Baylor Genetics 0 12 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 9 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 3 0 1 0 0 0 1
Leiden Open Variation Database 0 2 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517 0.00013
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter) rs762307622 0.00002
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097 0.00001
NM_000321.3(RB1):c.1206C>T (p.Ser402=) rs752679968 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003001.5(SDHC):c.380A>G (p.His127Arg) rs786203457 0.00001
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2604_2609del
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.3(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_000546.6(TP53):c.587G>T (p.Arg196Leu) rs483352697
NM_000546.6(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_003072.5(SMARCA4):c.1757_1760del (p.Lys586fs) rs1342399494
NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs) rs34134064
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter) rs929474806

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