ClinVar Miner

Variants from Clingen Thrombosis Variant Curation Expert Panel, ClinGen with conflicting interpretations

Location: United States  Primary collection method: curation
Minimum review status of the submission from Clingen Thrombosis Variant Curation Expert Panel, ClinGen: Collection method of the submission from Clingen Thrombosis Variant Curation Expert Panel, ClinGen:
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
18 37 0 23 13 0 18 51

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
Clingen Thrombosis Variant Curation Expert Panel, ClinGen pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 12 5 4 1
likely pathogenic 10 0 2 0 1
uncertain significance 3 8 0 5 0
likely benign 0 0 8 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
Labcorp Genetics (formerly Invitae), Labcorp 0 41 0 7 7 0 8 22
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 6 0 0 5 11
OMIM 0 14 0 7 0 0 4 11
Illumina Laboratory Services, Illumina 0 6 0 0 7 0 1 8
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 2 0 5 0 0 1 6
CSER _CC_NCGL, University of Washington 0 0 0 0 0 0 4 4
Fulgent Genetics, Fulgent Genetics 0 4 0 0 2 0 1 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 1 0 0 1 2
MVZ Martinsried, Medicover Genetics 0 1 0 1 0 0 1 2
Revvity Omics, Revvity 0 0 0 2 0 0 0 2
3billion 0 1 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 3 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 0 1
Laboratory for Immunogenetics and Molecular Haemostaseology, Universitaetsklinikum Erlangen 0 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 0 0 1 0 0 0 1
Variantyx, Inc. 0 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 51
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000488.4(SERPINC1):c.439A>G (p.Thr147Ala) rs2227606 0.00184
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00167
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00110
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00084
NM_000488.4(SERPINC1):c.529C>T (p.Arg177Cys) rs143521873 0.00041
NM_000488.4(SERPINC1):c.-57G>A rs372524963 0.00029
NM_000488.4(SERPINC1):c.29C>A (p.Thr10Asn) rs61736655 0.00029
NM_000488.4(SERPINC1):c.870C>T (p.Phe290=) rs370190321 0.00026
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000488.4(SERPINC1):c.299A>G (p.Asp100Gly) rs369524182 0.00008
NM_000488.4(SERPINC1):c.47T>C (p.Val16Ala) rs531137446 0.00008
NM_000488.4(SERPINC1):c.1154-5T>C rs375346550 0.00007
NM_000488.4(SERPINC1):c.235C>T (p.Arg79Cys) rs121909547 0.00005
NM_000488.4(SERPINC1):c.594T>C (p.Tyr198=) rs183416252 0.00005
NM_000488.4(SERPINC1):c.87C>T (p.Cys29=) rs188274879 0.00004
NM_000488.4(SERPINC1):c.1278G>A (p.Ser426=) rs773792958 0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe) rs121909567 0.00001
NM_000488.4(SERPINC1):c.408+4C>T rs201551398 0.00001
NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro) rs765445413 0.00001
NM_000488.4(SERPINC1):c.655A>G (p.Asn219Asp) rs121909571 0.00001
NM_000488.4(SERPINC1):c.1057C>T (p.Pro353Ser) rs2102782517
NM_000488.4(SERPINC1):c.1141T>C (p.Ser381Pro) rs121909565
NM_000488.4(SERPINC1):c.1154-14G>A rs542881762
NM_000488.4(SERPINC1):c.1157T>C (p.Ile386Thr) rs1449772752
NM_000488.4(SERPINC1):c.116T>A (p.Ile39Asn) rs121909558
NM_000488.4(SERPINC1):c.116T>C (p.Ile39Thr) rs121909558
NM_000488.4(SERPINC1):c.1190C>G (p.Ser397Ter) rs2102778910
NM_000488.4(SERPINC1):c.1219-2A>G rs2102773374
NM_000488.4(SERPINC1):c.1219-8A>G rs2526543578
NM_000488.4(SERPINC1):c.1240G>A (p.Ala414Thr) rs121909557
NM_000488.4(SERPINC1):c.1247dup (p.Ser417fs) rs2526543302
NM_000488.4(SERPINC1):c.1271G>A (p.Gly424Asp) rs121909566
NM_000488.4(SERPINC1):c.1274G>C (p.Arg425Pro) rs121909549
NM_000488.4(SERPINC1):c.1275T>C (p.Arg425=) rs1227097057
NM_000488.4(SERPINC1):c.1277C>T (p.Ser426Leu) rs121909550
NM_000488.4(SERPINC1):c.1306G>A (p.Ala436Thr) rs121909546
NM_000488.4(SERPINC1):c.1316C>T (p.Pro439Leu) rs121909555
NM_000488.4(SERPINC1):c.1376C>A (p.Ala459Asp) rs1572084448
NM_000488.4(SERPINC1):c.1393T>C (p.Ter465Gln) rs1572084425
NM_000488.4(SERPINC1):c.21A>T (p.Gly7=) rs2526612908
NM_000488.4(SERPINC1):c.235C>A (p.Arg79Ser) rs121909547
NM_000488.4(SERPINC1):c.283T>C (p.Tyr95His) rs1657913203
NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro) rs121909569
NM_000488.4(SERPINC1):c.482G>A (p.Arg161Gln) rs121909563
NM_000488.4(SERPINC1):c.490C>T (p.Arg164Ter) rs199469504
NM_000488.4(SERPINC1):c.500A>C (p.Asn167Thr) rs121909570
NM_000488.4(SERPINC1):c.536T>C (p.Phe179Ser) rs483352847
NM_000488.4(SERPINC1):c.592T>C (p.Tyr198His) rs1572090114
NM_000488.4(SERPINC1):c.624+1G>A rs1572090079
NM_000488.4(SERPINC1):c.771del (p.Leu256_Trp257insTer) rs1572088853
NM_000488.4(SERPINC1):c.953C>T (p.Pro318Leu) rs1460568494

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