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 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
50 18 2 21 0 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
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital pathogenic likely pathogenic uncertain significance benign
pathogenic 2 20 7 1
likely pathogenic 1 0 0 0

Submitter to submitter summary #

Total submitters: 14
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
Counsyl 0 7 0 14 0 0 2 16
Invitae 0 16 0 3 0 0 3 6
Illumina Clinical Services Laboratory,Illumina 0 1 0 1 0 0 3 4
Mendelics 0 1 0 1 0 0 1 2
GeneReviews 0 2 2 0 0 0 0 2
Natera, Inc. 0 2 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 0 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 4 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 1 0 0 0 1
Myriad Women's Health, Inc. 0 1 0 1 0 0 0 1
Nilou-Genome Lab 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del) rs765373403
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile) rs547709692
NM_000282.4(PCCA):c.105+1G>A rs879253804
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.1747-1G>C rs879253803
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys) rs879253810
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) rs879253805
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179
NM_000507.4(FBP1):c.611_614del (p.Lys204fs) rs761470205
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000532.5(PCCB):c.372+2T>C rs879253814
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp) rs879253815
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter) rs863225262
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515
NM_001918.4(DBT):c.939G>C (p.Lys313Asn) rs398123676
NM_181798.1(KCNQ1):c.1381A>T (p.Ile461Phe) rs794728536
NM_181798.1(KCNQ1):c.143_153dup (p.Gly52fs) rs763462603
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly) rs869312126
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867

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