ClinVar Miner

Variants in gene SMCHD1 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
376 24 0 5 22 0 1 27

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 uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 1 0 19 4
likely benign 0 19 0 5
benign 0 4 5 0

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_015295.2(SMCHD1):c.1164G>A (p.Lys388=) rs778279069
NM_015295.2(SMCHD1):c.1191C>T (p.Asp397=) rs535674229
NM_015295.2(SMCHD1):c.1419A>G (p.Glu473=) rs117771893
NM_015295.2(SMCHD1):c.1479T>C (p.Thr493=) rs755868793
NM_015295.2(SMCHD1):c.1580C>T (p.Thr527Met) rs397518422
NM_015295.2(SMCHD1):c.1608A>G (p.Lys536=) rs72862973
NM_015295.2(SMCHD1):c.1956+7C>T rs145755468
NM_015295.2(SMCHD1):c.1957-3C>T rs201069969
NM_015295.2(SMCHD1):c.2147-7C>T rs113524119
NM_015295.2(SMCHD1):c.2151G>A (p.Ala717=) rs372945746
NM_015295.2(SMCHD1):c.2289G>A (p.Ser763=) rs58683258
NM_015295.2(SMCHD1):c.2838T>C (p.Ala946=) rs375251871
NM_015295.2(SMCHD1):c.288C>T (p.Thr96=) rs369550628
NM_015295.2(SMCHD1):c.2913+6C>G rs186678728
NM_015295.2(SMCHD1):c.306G>A (p.Ser102=) rs7229488
NM_015295.2(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340
NM_015295.2(SMCHD1):c.3414G>A (p.Ala1138=) rs778892054
NM_015295.2(SMCHD1):c.3444T>A (p.Pro1148=) rs76290319
NM_015295.2(SMCHD1):c.4161C>T (p.Phe1387=) rs553970445
NM_015295.2(SMCHD1):c.424+10C>T rs201631086
NM_015295.2(SMCHD1):c.4695C>T (p.Phe1565=) rs757300247
NM_015295.2(SMCHD1):c.4827A>G (p.Leu1609=) rs774077792
NM_015295.2(SMCHD1):c.5126C>T (p.Ser1709Leu) rs151311806
NM_015295.2(SMCHD1):c.5478A>G (p.Val1826=) rs886043464
NM_015295.2(SMCHD1):c.5625C>T (p.Gly1875=) rs886044408
NM_015295.2(SMCHD1):c.5878+8T>G rs144115061
NM_015295.2(SMCHD1):c.985C>A (p.Pro329Thr) rs145233420

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