ClinVar Miner

Variants from Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics with conflicting interpretations

Location: India — Primary collection method: research
Minimum review status of the submission from Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics: Collection method of the submission from Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics:
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
72 3 1 6 0 0 7 13

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
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics pathogenic likely pathogenic uncertain significance likely benign
likely pathogenic 6 1 6 3

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
Invitae 0 1 0 2 0 0 3 5
OMIM 0 0 0 4 0 0 0 4
Illumina Clinical Services Laboratory,Illumina 0 0 0 1 0 0 3 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 1 0 0 2 3
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 1 2
GeneDx 0 0 0 1 0 0 1 2
Ambry Genetics 0 0 0 1 0 0 1 2
Counsyl 0 3 0 1 0 0 1 2
GeneReviews 0 0 0 2 0 0 0 2
Athena Diagnostics Inc 0 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 1 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 2 0 1 0 0 0 1
Fulgent Genetics 0 0 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000540.2(RYR1):c.4481T>C (p.Val1494Ala) rs767928113
NM_000540.2(RYR1):c.5634_5636delGGA (p.Glu1878del) rs371047178
NM_001164405.1(BHLHA9):c.220_221delGAinsTT (p.Glu74Leu) rs886037856
NM_002485.4(NBN):c.935T>A (p.Leu312Ter) rs371480039
NM_003922.3(HERC1):c.4906-2A>C rs797045141
NM_006371.4(CRTAP):c.634C>T (p.Arg212Ter) rs137853944
NM_017777.3(MKS1):c.958G>A (p.Val320Ile) rs386834053
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538
NM_024312.4(GNPTAB):c.1144A>C (p.Thr382Pro) rs112543062
NM_024312.4(GNPTAB):c.2550_2554delGAAAA (p.Lys850Asnfs) rs281864996
NM_152393.3(KLHL40):c.931C>A (p.Arg311Ser) rs763283033
NR_023343.1:n.30G>A rs374299350

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