ClinVar Miner

Variants from SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation with conflicting interpretations

Location: India  Primary collection method: research
Minimum review status of the submission from SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation: Collection method of the submission from SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation:
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
178 17 0 6 2 0 9 17

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
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation pathogenic likely pathogenic uncertain significance benign
pathogenic 0 3 1 0
likely pathogenic 3 0 2 2
uncertain significance 3 1 0 2

Submitter to submitter summary #

Total submitters: 6
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
Invitae 0 14 0 0 2 0 5 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 6 0 4 0 0 0 4
ClinGen Hearing Loss Variant Curation Expert Panel 0 1 0 1 0 0 2 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 1 0 0 1 2
GeneReviews 0 0 0 1 0 0 0 1
3billion 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991 0.00039
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp) rs572052810 0.00002
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg) rs771456483 0.00001
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg) rs768929313 0.00001
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284 0.00001
NM_000330.4(RS1):c.349C>T (p.Gln117Ter) rs199469696
NM_000330.4(RS1):c.579del (p.Ile194fs) rs199469697
NM_024649.5(BBS1):c.1340-2A>G rs113994180
NM_024685.4(BBS10):c.1184A>G (p.His395Arg) rs1368733646
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_152618.3(BBS12):c.1291C>T (p.Arg431Trp) rs756955366
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238

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