ClinVar Miner

Variants from Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS with conflicting interpretations

Location: India  Primary collection method: research
Minimum review status of the submission from Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS: Collection method of the submission from Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS:
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
145 15 0 36 0 0 9 43

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
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 13 2 1 0
likely pathogenic 22 0 5 2 1
likely benign 0 0 0 0 1

Submitter to submitter summary #

Total submitters: 31
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
Labcorp Genetics (formerly Invitae), Labcorp 0 7 0 12 0 0 5 17
Baylor Genetics 0 6 0 7 0 0 0 7
Natera, Inc. 0 9 0 7 0 0 0 7
OMIM 0 2 0 5 0 0 0 5
Counsyl 0 4 0 3 0 0 1 4
Fulgent Genetics, Fulgent Genetics 0 5 0 3 0 0 1 4
Neuberg Centre For Genomic Medicine, NCGM 0 3 0 3 0 0 1 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 2 0 0 1 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 3 0 0 0 3
3billion 0 2 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 2 0 0 0 2
Myriad Genetics, Inc. 0 2 0 2 0 0 0 2
Blueprint Genetics 0 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 0 1
Department of Pediatrics, University of Modena and Reggio Emilia 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 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
GeneDx 0 0 0 0 0 0 1 1
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 1 0 0 0 1
New York Genome Center 0 0 0 1 0 0 0 1
Pediatric Department, Peking University First Hospital 0 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 3 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 3 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_024312.5(GNPTAB):c.2019A>G (p.Lys673=) rs551905649 0.00005
NR_023343.1:n.30G>A rs374299350 0.00005
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter) rs137853944 0.00004
NM_020975.6(RET):c.1438G>A (p.Glu480Lys) rs537874538 0.00004
NM_001377.3(DYNC2H1):c.7784A>G (p.His2595Arg) rs755505546 0.00003
NM_019109.5(ALG1):c.652C>T (p.Pro218Ser) rs528261173 0.00003
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825 0.00002
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) rs769904764 0.00002
NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln) rs531148057 0.00002
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro) rs751427686 0.00001
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser) rs776442314 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_001114753.3(ENG):c.790G>A (p.Asp264Asn) rs1210433339 0.00001
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) rs762742204 0.00001
NM_006623.4(PHGDH):c.357-1G>A rs766427173 0.00001
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys) rs769587233 0.00001
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser) rs763283033 0.00001
NC_000017.11:g.1270783_1270784delinsTT rs886037856
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter) rs1567914459
NM_000466.3(PEX1):c.1670+1G>A rs1057517490
NM_000543.5(SMPD1):c.1088T>G (p.Leu363Arg) rs2134013368
NM_000543.5(SMPD1):c.1171A>C (p.Asn391His) rs2134017443
NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser) rs1319643225
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln) rs199915216
NM_000543.5(SMPD1):c.1817del (p.Pro606fs) rs1554935746
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000543.5(SMPD1):c.505dup (p.His169fs) rs781535659
NM_000543.5(SMPD1):c.518dup (p.Ser174fs) rs786204733
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe) rs1847925080
NM_001079802.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001257096.2(PAX1):c.1169_1173dup (p.Pro392fs) rs1555804780
NM_002485.5(NBN):c.935T>A (p.Leu312Ter) rs371480039
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro) rs112543062
NM_024312.5(GNPTAB):c.1408+1G>T rs1060499680
NM_024312.5(GNPTAB):c.1613-25del rs546802775
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs) rs281864996
NM_024312.5(GNPTAB):c.3602G>A (p.Trp1201Ter) rs1952850511
NM_144596.4(TTC8):c.114+2T>C rs1273244823

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