ClinVar Miner

Variants from Wessex Regional Genetics Laboratory,Salisbury District Hospital with conflicting interpretations

Location: United Kingdom — Primary collection method: clinical testing
Minimum review status of the submission from Wessex Regional Genetics Laboratory,Salisbury District Hospital: Collection method of the submission from Wessex Regional Genetics Laboratory,Salisbury District 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 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
225 47 0 11 0 0 6 17

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
Wessex Regional Genetics Laboratory,Salisbury District Hospital pathogenic likely pathogenic uncertain significance
pathogenic 0 3 1
likely pathogenic 8 0 4
uncertain significance 0 1 0

Submitter to submitter summary #

Total submitters: 10
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 13 0 4 0 0 1 5
OMIM 0 14 0 4 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 8 0 2 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 7 0 0 0 0 2 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 0 1 2
Invitae 0 13 0 0 0 0 1 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 6 0 0 0 0 1 1
GeneReviews 0 4 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_000280.4(PAX6):c.1033-3C>G rs886044223
NM_000280.4(PAX6):c.1088C>A (p.Ser363Ter) rs1411880763
NM_000280.4(PAX6):c.112C>G (p.Arg38Gly)
NM_000280.4(PAX6):c.255C>T (p.Ser85=) rs1064793223
NM_000280.4(PAX6):c.34G>C (p.Gly12Arg) rs1565246499
NM_000280.4(PAX6):c.622C>T (p.Arg208Trp) rs757259413
NM_000280.4(PAX6):c.76C>G (p.Arg26Gly) rs121907913
NM_001079846.1(CREBBP):c.3410A>G (p.Tyr1137Cys) rs28937315
NM_001079846.1(CREBBP):c.3718G>A (p.Glu1240Lys) rs267606752
NM_001079846.1(CREBBP):c.4325A>G (p.Asp1442Gly) rs886041286
NM_001079846.1(CREBBP):c.4345C>T (p.His1449Tyr) rs1057519207
NM_001079846.1(CREBBP):c.4922_4924CCT[1] (p.Ser1642del) rs587783502
NM_019040.5(ELP4):c.*6411T>A rs121907922
NM_023067.4(FOXL2):c.178_192dup (p.Val60_Ala64dup) rs863225452
NM_023067.4(FOXL2):c.313_315del (p.Asn105del) rs1057516154
NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro) rs1057516160
NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe) rs797044527

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