ClinVar Miner

Variants from Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center: Collection method of the submission from Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic 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 Variants with at least 2 submissions 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 kind of conflict
28 32 8 20 10 0 2 35

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
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 4 6 0 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 1 1 0 9 5
likely benign 0 0 1 0 1
benign 0 0 0 11 4

Submitter to submitter summary #

Total submitters: 17
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
GeneDx 0 39 4 4 6 0 1 15
Illumina Clinical Services Laboratory,Illumina 0 2 0 11 1 0 0 12
ClinGen RASopathy Variant Curation Expert Panel, 0 23 0 2 6 0 1 9
Invitae 0 38 0 2 5 0 1 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 44 0 3 3 0 1 7
GeneReviews 0 0 4 0 0 0 0 4
Ambry Genetics 0 10 0 1 1 0 1 3
Integrated Genetics/Laboratory Corporation of America 0 18 0 0 3 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 24 0 0 2 0 0 2
PreventionGenetics 0 17 0 0 2 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 25 0 0 1 0 1 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 5 0 1 1 0 0 2
Database of Curated Mutations (DoCM) 0 0 0 2 0 0 0 2
OMIM 0 13 0 0 0 0 1 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 10 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 5 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP
NM_002524.3(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.4(NRAS):c.225C>T (p.Gly75=) rs142739534
NM_002755.3(MAP2K1):c.-2A>G rs77796976
NM_002755.3(MAP2K1):c.1023-8C>T rs41306345
NM_002755.3(MAP2K1):c.693+10G>A rs377034924
NM_002834.4(PTPN11):c.1093-9C>A rs12301915
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.4(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.4(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.4(PTPN11):c.332+17T>G rs115658366
NM_002834.4(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.4(PTPN11):c.781C>T (p.Leu261Phe) rs397507525
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.4(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002880.3(RAF1):c.1113T>C (p.Asp371=) rs146668293
NM_002880.3(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_002880.3(RAF1):c.1755A>G (p.Val585=) rs3730296
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_004333.4(BRAF):c.-19C>T rs71645935
NM_004333.5(BRAF):c.111G>A (p.Ser37=) rs727502906
NM_004333.5(BRAF):c.1383A>G (p.Gln461=) rs56216404
NM_004333.5(BRAF):c.1433-19A>G rs369635503
NM_004333.5(BRAF):c.1992+16G>C rs3789806
NM_004985.4(KRAS):c.451-9G>A rs12313763
NM_004985.4(KRAS):c.519T>C (p.Asp173=) rs1137282
NM_004985.4(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_172171.2(CAMK2G):c.875G>C (p.Arg292Pro) rs397514627

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