ClinVar Miner

Variants from Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital with conflicting interpretations

Location: Italy  Primary collection method: research
Minimum review status of the submission from Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital: Collection method of the submission from Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
101 15 0 22 1 0 7 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.

All submitters
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital pathogenic likely pathogenic uncertain significance
pathogenic 0 10 6
likely pathogenic 12 0 1
likely benign 0 0 1

Submitter to submitter summary #

Total submitters: 19
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 2 0 8 0 0 0 8
GeneDx 0 10 0 2 0 0 2 4
Cole/Wambach Lab, Washington University in St. Louis 0 1 0 3 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 4 0 3 0 0 0 3
Baylor Genetics 0 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 0 0 0 0 2 2
Labcorp Genetics (formerly Invitae), Labcorp 0 3 0 0 1 0 1 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 0 1 0 0 0 1
DESAM Institute, Near East University 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 0 0 0 0 1 1
MGZ Medical Genetics Center 0 0 0 0 0 0 1 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 0 1 0 0 0 1
Solve-RD Consortium 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_007055.4(POLR3A):c.2617-1G>A rs181087667 0.00003
NM_006494.4(ERF):c.652C>T (p.Arg218Ter) rs1425504754 0.00001
NM_007055.4(POLR3A):c.1048+5G>T rs890755853 0.00001
NM_007055.4(POLR3A):c.3337-11T>C rs1564613755 0.00001
NM_001182.5(ALDH7A1):c.651-18T>A rs2112792324
NM_001659.3(ARF3):c.277G>A (p.Asp93Asn) rs2498893389
NM_001791.4(CDC42):c.203G>A (p.Arg68Gln) rs1553196096
NM_001791.4(CDC42):c.247T>C (p.Ser83Pro) rs1553196101
NM_001791.4(CDC42):c.476C>T (p.Ala159Val) rs1553196134
NM_003482.4(KMT2D):c.11846AACAGCAGC[1] (p.Gln3952_Gln3954del) rs765742357
NM_003482.4(KMT2D):c.13507C>T (p.Gln4503Ter) rs2498349642
NM_005321.3(H1-4):c.408dup (p.Lys137fs) rs1581429395
NM_005321.3(H1-4):c.430dup (p.Ala144fs) rs1131690805
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) rs1064794325
NM_007055.4(POLR3A):c.*18C>T rs1248039821
NM_007055.4(POLR3A):c.1800C>T (p.Ile600=) rs1564620047
NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter) rs1564617848
NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln) rs778985686
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile) rs1168641193
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg) rs768222183
NM_007373.4(SHOC2):c.517A>G (p.Met173Val) rs1057518206
NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter) rs2071226510
NM_015001.3(SPEN):c.6087_6088del (p.Glu2029fs) rs2148740878
NM_015001.3(SPEN):c.6223_6227del (p.Ser2075fs) rs2148741007
NM_015001.3(SPEN):c.6799G>T (p.Glu2267Ter) rs754293393
NM_152753.4(SCUBE3):c.1717C>T (p.Arg573Ter) rs1436996181
NM_176795.5(HRAS):c.488_497del (p.Leu163fs) rs764755556

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