ClinVar Miner

Variants from Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital with conflicting interpretations

Location: Canada — Primary collection method: curation
Minimum review status of the submission from Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital: Collection method of the submission from Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley 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
10 3 0 13 2 22 5 27

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 Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital pathogenic likely pathogenic uncertain significance likely benign other
pathogenic 0 7 2 0 15
likely pathogenic 1 0 2 0 2
uncertain significance 0 1 0 0 0
benign 0 0 2 5 5

Submitter to submitter summary #

Total submitters: 11
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
OMIM 0 2 0 0 0 22 0 22
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 9 0 2 1 2 4 9
Counsyl 0 4 0 5 1 0 2 8
Illumina Clinical Services Laboratory,Illumina 0 4 0 5 0 0 0 5
CSER_CC_NCGL; University of Washington Medical Center 0 2 0 2 0 0 2 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 7 0 0 0 0 1 1
GeneDx 0 2 0 1 0 0 0 1
Ambry Genetics 0 1 0 0 0 0 1 1
Invitae 0 3 0 1 0 0 0 1
GeneReviews 0 10 0 1 0 0 0 1
Fulgent Genetics 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr) rs1802959
NM_000295.4(SERPINA1):c.424C>T (p.Leu142=) rs20546
NM_000295.4(SERPINA1):c.646+1G>T rs751235320
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) rs199422211
NM_000295.4(SERPINA1):c.745G>C (p.Gly249Arg) rs764220898
NM_000295.4(SERPINA1):c.840T>C (p.Asp280=) rs1049800
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) rs140814100
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569
NM_001127701.1(SERPINA1):c.227_229del (p.Phe76del) rs775982338
NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe) rs55819880
NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu) rs28931568
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) rs199422213
NM_001127701.1(SERPINA1):c.347T>A (p.Ile116Asn) rs28931572
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932
NM_001127701.1(SERPINA1):c.415G>A (p.Gly139Ser) rs11558261
NM_001127701.1(SERPINA1):c.552delC (p.Tyr184Terfs) rs267606950
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys) rs199422208
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470
NM_001127701.1(SERPINA1):c.77A>C (p.Asp26Ala) rs199422212
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580

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