ClinVar Miner

Variants in gene CACNA1H 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 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
515 81 0 11 6 2 0 18

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.

uncertain significance likely benign benign risk factor
uncertain significance 0 4 2 1
likely benign 4 0 11 1
benign 2 11 0 1
risk factor 1 1 1 0

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_021098.3(CACNA1H):c.1517G>A (p.Arg506Gln) rs532223684
NM_021098.3(CACNA1H):c.1844C>T (p.Thr615Met) rs368976749
NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu) rs60734921
NM_021098.3(CACNA1H):c.2057C>T (p.Pro686Leu) rs145376050
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr) rs58173258
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=) rs577235589
NM_021098.3(CACNA1H):c.2759C>T (p.Thr920Met) rs59052554
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser) rs41292285
NM_021098.3(CACNA1H):c.3206G>A (p.Arg1069Gln) rs57633676
NM_021098.3(CACNA1H):c.3364-3C>T rs57079020
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=) rs370039255
NM_021098.3(CACNA1H):c.385G>A (p.Gly129Ser) rs187596702
NM_021098.3(CACNA1H):c.4039-4G>A rs57315342
NM_021098.3(CACNA1H):c.4488G>A (p.Ser1496=) rs377112179
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323
NM_021098.3(CACNA1H):c.5113G>A (p.Ala1705Thr) rs148651456
NM_021098.3(CACNA1H):c.5173+10C>T rs72554026
NM_021098.3(CACNA1H):c.6653G>A (p.Arg2218His) rs56885166

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