ClinVar Miner

Variants from Regeneron Genetics Center, Regeneron with conflicting interpretations

Location: United States  Primary collection method: research
Minimum review status of the submission from Regeneron Genetics Center, Regeneron: Collection method of the submission from Regeneron Genetics Center, Regeneron:
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
1 0 0 0 1 0 10 11

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
Regeneron Genetics Center, Regeneron uncertain significance likely benign benign
likely pathogenic 8 1 1
uncertain significance 0 1 0

Submitter to submitter summary #

Total submitters: 2
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 0 0 0 1 0 10 11
CeGaT Center for Human Genetics Tuebingen 0 1 0 0 0 0 2 2

All variants with conflicting interpretations #

Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_015466.4(PTPN23):c.3051G>C (p.Gln1017His) rs201017613 0.00051
NM_015466.4(PTPN23):c.1291C>T (p.Arg431Trp) rs150712932 0.00016
NM_015466.4(PTPN23):c.3748G>A (p.Glu1250Lys) rs148689441 0.00011
NM_015466.4(PTPN23):c.695G>A (p.Arg232Gln) rs577689618 0.00009
NM_015466.4(PTPN23):c.1748A>G (p.Lys583Arg) rs147293860 0.00008
NM_015466.4(PTPN23):c.2680C>T (p.His894Tyr) rs967738491 0.00004
NM_015466.4(PTPN23):c.2747A>G (p.Gln916Arg) rs770692989 0.00004
NM_015466.4(PTPN23):c.2486C>T (p.Pro829Leu) rs138076291 0.00001
NM_015466.4(PTPN23):c.2866CAGCCCCATCCT[1] (p.956QPHP[1]) rs760022693
NM_015466.4(PTPN23):c.3886_3888del (p.Lys1296del) rs751809435
NM_015466.4(PTPN23):c.4651_4652dup (p.Leu1552fs) rs1576235873

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