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 per condition Variants with at least 2 submissions on the same condition 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 conflict
7 15 0 3 0 0 1 3

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
pathogenic 0 1 0
likely pathogenic 2 0 1

Submitter to submitter summary #

Total submitters: 3
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
OMIM 0 5 0 2 0 0 0 2
Counsyl 0 6 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 3
Download table as spreadsheet
HGVS dbSNP
NM_003126.4(SPTA1):c.137G>T (p.Gly46Val) rs121918638
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_181798.1(KCNQ1):c.517G>A (p.Ala173Thr) rs120074187

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