ClinVar Miner

Variants from Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital with conflicting interpretations

Location: China — Primary collection method: research
Minimum review status of the submission from Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital: Collection method of the submission from Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital:
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
116 22 3 10 0 1 1 14

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
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital pathogenic likely pathogenic likely benign affects
pathogenic 3 4 0 1
likely pathogenic 6 0 1 0

Submitter to submitter summary #

Total submitters: 14
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
OMIM 0 12 0 4 0 0 0 4
GeneReviews 0 1 3 1 0 0 0 4
Invitae 0 11 0 2 0 0 1 3
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 0 0 0 1 1
Institute of Human Genetics, Klinikum rechts der Isar 0 6 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 0 0 1
Pediatrics,All India Institute of Medical Sciences, New Delhi 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) rs80053154
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000267.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000515.5(GH1):c.626G>A (p.Arg209His) rs137853223
NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) rs80338797
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser) rs117134265
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_012448.4(STAT5B):c.1102del (p.Gln368fs)

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