ClinVar Miner

Variants from Endocrinology Clinic, Seth G.S. Medical College with conflicting interpretations

Location: India — Primary collection method: research
Minimum review status of the submission from Endocrinology Clinic, Seth G.S. Medical College: Collection method of the submission from Endocrinology Clinic, Seth G.S. 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 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
30 1 0 2 0 0 2 4

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
Endocrinology Clinic, Seth G.S. Medical College pathogenic likely pathogenic uncertain significance
pathogenic 0 1 1
likely pathogenic 1 0 1

Submitter to submitter summary #

Total submitters: 5
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
OMIM 0 0 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 0 0 1 1
Counsyl 0 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_001122757.2(POU1F1):c.712_716delGAAAG (p.Arg239Lysfs) rs772390221
NM_006261.4(PROP1):c.112_124del13 (p.Ser38Profs) rs587776682
NM_023110.2(FGFR1):c.443G>A (p.Arg148His) rs515726222

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