ClinVar Miner

Variants from Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea with conflicting interpretations

Location: Korea, Republic of — Primary collection method: research
Minimum review status of the submission from Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea: Collection method of the submission from Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea:
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
22 13 5 5 0 1 3 12

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
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea pathogenic likely pathogenic uncertain significance
pathogenic 5 4 1
likely pathogenic 1 0 2
affects 0 0 1

Submitter to submitter summary #

Total submitters: 11
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
GeneReviews 0 0 5 0 0 0 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 8 0 1 0 1 1 3
Athena Diagnostics Inc 0 3 0 1 0 0 1 2
Baylor Miraca Genetics Laboratories, 0 0 0 0 0 0 1 1
GeneDx 0 7 0 1 0 0 0 1
Ambry Genetics 0 0 0 1 0 0 0 1
Counsyl 0 3 0 1 0 0 0 1
Invitae 0 5 0 0 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 1 0 0 0 1 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000070.2(CAPN3):c.1795dupA (p.Thr599Asnfs) rs80338803
NM_000257.4(MYH7):c.1498_1500del (p.Glu500del) rs1555338254
NM_000784.3(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098
NM_001100.3(ACTA1):c.739G>C (p.Gly247Arg) rs1057521117
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001128227.2(GNE):c.2228T>C (p.Met743Thr) rs28937594
NM_001927.3(DES):c.1255C>T (p.Pro419Ser) rs62635763
NM_003494.3(DYSF):c.5303G>A (p.Arg1768Gln) rs148860301
NM_025137.3(SPG11):c.5410_5411delTG (p.Cys1804Profs) rs312262766
NM_025137.4(SPG11):c.3291+1G>T rs312262753
NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu) rs137852973
NM_213599.2(ANO5):c.1640G>A (p.Arg547Gln) rs139618850

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