ClinVar Miner

Variants from Bioinformatics dept.,Datar Cancer Genetics Limited, India with conflicting interpretations

Location: India — Primary collection method: clinical testing
Minimum review status of the submission from Bioinformatics dept.,Datar Cancer Genetics Limited, India: Collection method of the submission from Bioinformatics dept.,Datar Cancer Genetics Limited, India:
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
4 13 3 6 0 2 3 8

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
Bioinformatics dept.,Datar Cancer Genetics Limited, India pathogenic likely pathogenic uncertain significance likely benign risk factor
pathogenic 3 2 0 0 2
likely pathogenic 4 0 3 1 0

Submitter to submitter summary #

Total submitters: 13
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 5 0 3 0 2 0 5
GeneReviews 0 0 3 0 0 0 0 3
GeneDx 0 14 0 0 0 0 2 2
Invitae 0 13 0 1 0 0 1 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 0 0 0 0 1 1
Ambry Genetics 0 12 0 0 0 0 1 1
PreventionGenetics 0 2 0 0 0 0 1 1
Counsyl 0 8 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 1 0 0 0 0 1 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 0 0 0 0 1 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 0 0 0 1 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 0 0 1 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000218.2(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187
NM_000256.3(MYBPC3):c.3628-41_3628-17delAGCCTGGATGGCTTCCCTCCCTCTC rs36212066
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_003126.3(SPTA1):c.137G>T (p.Gly46Val) rs121918638
NM_007294.3(BRCA1):c.4065_4068delTCAA (p.Asn1355Lysfs) rs80357508
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395

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