ClinVar Miner

Variants with conflicting interpretations between Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and Genome Diagnostics Laboratory,University Medical Center Utrecht

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 36 0 23 4 0 1 28

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.

pathogenic likely pathogenic likely benign benign
pathogenic 0 1 0 0
likely pathogenic 1 0 0 0
uncertain significance 1 0 2 2
likely benign 0 0 0 16
benign 0 0 5 0

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826
NM_006846.3(SPINK5):c.802C>T (p.Arg268Cys) rs142558269
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468
NM_016729.3(FOLR1):c.493+2T>C rs144637717
NM_019109.4(ALG1):c.773C>T (p.Ser258Leu) rs28939378
NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444
NM_031885.4(BBS2):c.805-20A>G rs41280892
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_182914.2(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299

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