ClinVar Miner

Variants with conflicting interpretations between Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and CSER_CC_NCGL; University of Washington Medical Center

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
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
0 21 0 1 9 0 3 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.

likely pathogenic uncertain significance likely benign
pathogenic 0 1 1
uncertain significance 1 0 5
likely benign 0 4 0
benign 0 0 1

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000222.2(KIT):c.532G>A (p.Ala178Thr) rs115585711
NM_000364.4(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214

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