ClinVar Miner

Variants from Center for Personalized Medicine, Children's Hospital Los Angeles with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Center for Personalized Medicine, Children's Hospital Los Angeles: Collection method of the submission from Center for Personalized Medicine, Children's Hospital Los Angeles:
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
153 54 0 23 4 0 11 34

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
Center for Personalized Medicine, Children's Hospital Los Angeles pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 9 1 1 0
likely pathogenic 13 0 5 1 0
uncertain significance 1 2 0 2 2
likely benign 0 0 0 0 1

Submitter to submitter summary #

Total submitters: 17
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
GeneDx 0 41 0 9 2 0 1 12
Invitae 0 20 0 7 2 0 1 10
CeGaT Center for Human Genetics Tuebingen 0 13 0 3 0 0 2 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 4 0 1 0 0 3 4
Genetic Services Laboratory, University of Chicago 0 3 0 1 1 0 1 3
Database of Curated Mutations (DoCM) 0 0 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 3 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 0 1 0 0 1 2
Baylor Genetics 0 3 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 14 0 0 0 0 1 1
Eurofins Ntd Llc (ga) 0 10 0 0 0 0 1 1
Blueprint Genetics 0 2 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 0 0 0 1 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 5 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003737.4(DCHS1):c.379G>A (p.Val127Ile) rs112402535 0.00518
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_003737.4(DCHS1):c.1679C>T (p.Ser560Phe) rs143753116 0.00020
NM_003737.4(DCHS1):c.877G>A (p.Glu293Lys) rs140867718 0.00016
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) rs62641232 0.00003
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr) rs80338755 0.00001
NM_000318.3(PEX2):c.782A>G (p.His261Arg) rs749956542 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_001031689.3(PLAA):c.1487-1G>A rs1426488816 0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln) rs140079523 0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) rs139430866 0.00001
NM_032620.4(GTPBP3):c.17G>A (p.Trp6Ter) rs756394857 0.00001
NM_000252.3(MTM1):c.1262G>T (p.Arg421Leu) rs587783772
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000612.6(IGF2):c.106G>T (p.Glu36Ter)
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001457.4(FLNB):c.502G>A (p.Gly168Ser) rs80356504
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) rs1555908409
NM_003470.3(USP7):c.383+1G>C rs1567227059
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) rs1567263168
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_006218.4(PIK3CA):c.3143A>G (p.His1048Arg) rs1553826184
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_017934.7(PHIP):c.919_923del (p.Ile307fs) rs771126523
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys) rs398124380
NM_130797.4(DPP6):c.157_184del (p.Pro53fs) rs2129062565

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