ClinVar Miner

Variants from Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai with conflicting interpretations

Location: United States  Primary collection method: research
Minimum review status of the submission from Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai: Collection method of the submission from Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai:
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
0 0 0 3 0 0 2 3

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
Mount Sinai Diagnostic Laboratory, Icahn School of Medicine at Mount Sinai likely pathogenic uncertain significance likely benign
pathogenic 2 2 0
benign 0 0 1

Submitter to submitter summary #

Total submitters: 5
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
Illumina Laboratory Services, Illumina 0 0 0 1 0 0 1 2
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 1 2
Revvity Omics, Revvity Omics 0 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209

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