ClinVar Miner

Variants in gene SMC3 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
165 14 0 11 11 0 0 19

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 0 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 0 0 0 5 6
likely benign 0 0 5 0 9
benign 0 0 6 9 0

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
NM_005445.3(SMC3):c.1092-8T>G rs79912955
NM_005445.3(SMC3):c.1280A>G (p.Lys427Arg) rs142524280
NM_005445.3(SMC3):c.1581T>C (p.His527=) rs182445355
NM_005445.3(SMC3):c.1671-6A>G rs200848781
NM_005445.3(SMC3):c.1680T>C (p.Tyr560=) rs75817442
NM_005445.3(SMC3):c.1964G>A (p.Gly655Asp) rs587784425
NM_005445.3(SMC3):c.2007T>C (p.Tyr669=) rs147404470
NM_005445.3(SMC3):c.2268+4C>T rs587784426
NM_005445.3(SMC3):c.2329T>C (p.Leu777=) rs76625999
NM_005445.3(SMC3):c.2493T>C (p.Tyr831=) rs112525060
NM_005445.3(SMC3):c.2535+15T>G rs3818903
NM_005445.3(SMC3):c.255A>G (p.Ser85=) rs146433240
NM_005445.3(SMC3):c.255A>T (p.Ser85=) rs146433240
NM_005445.3(SMC3):c.2934G>A (p.Lys978=) rs147463420
NM_005445.3(SMC3):c.3259G>A (p.Val1087Ile) rs147743879
NM_005445.3(SMC3):c.3339A>G (p.Gln1113=) rs189703529
NM_005445.3(SMC3):c.3495T>A (p.Ala1165=) rs142395521
NM_005445.3(SMC3):c.548-5_548-4dup rs199906378
NM_005445.3(SMC3):c.707G>C (p.Arg236Pro) rs587784429

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