ClinVar Miner

Variants from Yang An-Suei Laboratory,Academia Sinica with conflicting interpretations

Location: Taiwan — Primary collection method: clinical testing
Minimum review status of the submission from Yang An-Suei Laboratory,Academia Sinica: Collection method of the submission from Yang An-Suei Laboratory,Academia Sinica:
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
6 12 0 4 0 0 0 4

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
Yang An-Suei Laboratory,Academia Sinica likely pathogenic
pathogenic 4

Submitter to submitter summary #

Total submitters: 5
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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 3 0 2 0 0 0 2
Counsyl 0 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 1 0 0 0 1
Color 0 1 0 1 0 0 0 1
Cancer Molecular Diagnostics Core,Tianjin Medical University Cancer Institute and Hospital 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 4
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HGVS dbSNP
NM_000051.3(ATM):c.6312G>A (p.Trp2104Ter) rs1555114766
NM_000059.3(BRCA2):c.3883C>T (p.Gln1295Ter) rs879255309
NM_007294.3(BRCA1):c.5075-1G>A rs1800747
NM_032043.2(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983

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