ClinVar Miner

Variants from Molecular Endocrinology Laboratory, Christian Medical College with conflicting interpretations

Location: India  Primary collection method: clinical testing
Minimum review status of the submission from Molecular Endocrinology Laboratory, Christian Medical College: Collection method of the submission from Molecular Endocrinology Laboratory, Christian Medical College:
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 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
58 46 0 8 16 0 7 29

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
Molecular Endocrinology Laboratory, Christian Medical College pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 0 0 0
likely pathogenic 5 0 5 0 0
uncertain significance 2 0 0 14 5

Submitter to submitter summary #

Total submitters: 32
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
Sharing Clinical Reports Project (SCRP) 0 13 0 0 5 0 1 6
Illumina Laboratory Services, Illumina 0 3 0 0 6 0 0 6
All of Us Research Program, National Institutes of Health 0 11 0 0 6 0 0 6
Counsyl 0 14 0 2 2 0 1 5
Baylor Genetics 0 11 0 2 0 0 1 3
Mendelics 0 1 0 0 3 0 0 3
Breast Cancer Information Core (BIC) (BRCA1) 0 16 0 0 0 0 3 3
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 22 0 1 2 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 1 1 0 0 2
Michigan Medical Genetics Laboratories, University of Michigan 0 1 0 0 2 0 0 2
Invitae 0 2 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 4 0 1 1 0 0 2
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 6 0 0 2 0 0 2
King Laboratory, University of Washington 0 0 0 1 0 0 0 1
Revvity Omics, Revvity 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 0 0 0 0 1 1
PreventionGenetics, part of Exact Sciences 0 0 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 4 0 0 1 0 0 1
Department of Medical Genetics, National Institute of Health 0 0 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 17 0 0 0 0 1 1
Undiagnosed Diseases Network, NIH 0 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 0 1 0 0 1
Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 0 0 1 0 0 1
Myriad Genetics, Inc. 0 0 0 0 1 0 0 1
New York Genome Center 0 2 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 1 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 1 0 0 0 1
BRCAlab, Lund University 0 9 0 0 1 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_144596.4(TTC8):c.625-5C>T rs137853922 0.00807
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro) rs200005406 0.00039
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065 0.00032
NM_000059.4(BRCA2):c.2488A>G (p.Asn830Asp) rs574039421 0.00010
NM_000059.4(BRCA2):c.4531G>A (p.Glu1511Lys) rs376338226 0.00004
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys) rs764251434 0.00002
NM_000059.4(BRCA2):c.1558T>G (p.Phe520Val) rs80358441 0.00001
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) rs13447332 0.00001
NM_007294.4(BRCA1):c.4765C>T (p.Arg1589Cys) rs80357002 0.00001
NM_000059.4(BRCA2):c.3569G>A (p.Arg1190Gln) rs80358605
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000059.4(BRCA2):c.475+3A>G rs81002795
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met) rs431825362
NM_000059.4(BRCA2):c.8488-5T>C rs533806629
NM_000497.4(CYP11B1):c.1201-1G>A rs1437397442
NM_006005.3(WFS1):c.2643_2644del (p.Phe883fs) rs863224268
NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly) rs397507201
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5215G>T (p.Asp1739Tyr) rs80357283
NM_007294.4(BRCA1):c.5407-10G>A rs273901767
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter) rs80356873
NM_152564.5(VPS13B):c.3742C>G (p.Leu1248Val) rs562686924
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) rs150272676

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.