ClinVar Miner

Variants from National Institute of Mental Health and Neurosciences with conflicting interpretations

Location: India  Primary collection method: research
Minimum review status of the submission from National Institute of Mental Health and Neurosciences: Collection method of the submission from National Institute of Mental Health and Neurosciences:
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
14 0 0 3 1 0 3 7

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
National Institute of Mental Health and Neurosciences pathogenic likely pathogenic likely benign benign
pathogenic 0 1 0 0
likely pathogenic 2 0 0 3
uncertain significance 0 0 1 0

Submitter to submitter summary #

Total submitters: 10
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 1 0 2 1 0 0 3
Mendelics 0 0 0 0 0 0 3 3
Genome-Nilou Lab 0 0 0 0 0 0 2 2
Baylor Genetics 0 1 0 1 0 0 0 1
Counsyl 0 1 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 1 0 0 0 1
Natera, Inc. 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 0 0 1 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.*165A>G rs8012 0.64188
NM_000159.4(GCDH):c.*288G>T rs9384 0.33464
NM_000159.4(GCDH):c.852+223C>T rs11085825 0.30906
NM_000159.4(GCDH):c.885C>T (p.Tyr295=) rs139192015 0.00006
NM_000159.4(GCDH):c.1031C>T (p.Thr344Ile) rs869025299
NM_000159.4(GCDH):c.1173del (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) rs786205862

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