ClinVar Miner

Variants from Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital with conflicting interpretations

Location: India — Primary collection method: research
Minimum review status of the submission from Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital: Collection method of the submission from Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital:
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
39 20 2 21 0 0 8 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
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 2 20 8 2 1
likely pathogenic 1 0 0 0 0

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
Counsyl 0 8 0 13 0 0 2 15
GeneDx 0 11 0 4 0 0 2 6
Invitae 0 7 0 2 0 0 2 4
Ambry Genetics 0 4 0 1 0 0 2 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 9 0 2 0 0 1 3
Illumina Clinical Services Laboratory,Illumina 0 1 0 1 0 0 2 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 1 2
GeneReviews 0 2 2 0 0 0 0 2
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_000218.2(KCNQ1):c.1597C>T (p.Arg533Trp) rs199472793
NM_000218.2(KCNQ1):c.1686-2A>G rs878854350
NM_000218.2(KCNQ1):c.1762A>T (p.Ile588Phe) rs794728536
NM_000218.2(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_000255.3(MMUT):c.1038_1040delTCT (p.Leu347del) rs765373403
NM_000255.3(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.3(MMUT):c.1852_1854delCTT (p.Leu618del) rs398123277
NM_000282.3(PCCA):c.1426C>T (p.Arg476Ter) rs768703749
NM_000282.3(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.3(PCCA):c.1747-1G>C rs879253803
NM_000282.3(PCCA):c.2002G>A (p.Gly668Arg) rs771438170
NM_000282.3(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.3(PCCA):c.863G>A (p.Arg288Lys) rs879253810
NM_000282.3(PCCA):c.937C>T (p.Arg313Ter) rs138149179
NM_000335.4(SCN5A):c.5690G>A (p.Arg1897His) rs370694515
NM_000507.3(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000532.4(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.4(PCCB):c.183+5G>A rs879253813
NM_000532.4(PCCB):c.372+2T>C rs879253814
NM_000532.4(PCCB):c.493C>T (p.Arg165Trp) rs879253815
NM_000709.3(BCKDHA):c.1198A>T (p.Lys400Ter) rs863225262
NM_000709.3(BCKDHA):c.1234G>A (p.Val412Met) rs398123490
NM_000709.3(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871
NM_000709.3(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515
NM_001127628.1(FBP1):c.611_614delAAAA (p.Lys204Argfs)
NM_001918.3(DBT):c.939G>C (p.Lys313Asn) rs398123676
NM_183050.2(BCKDHB):c.1022T>A (p.Ile341Asn) rs796051939
NM_183050.2(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867
NM_183050.3(BCKDHB):c.293T>G (p.Val98Gly) rs869312126

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.