ClinVar Miner

Variants in gene CAV3 with conflicting interpretations

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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
53 49 0 14 13 0 8 24

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 6 2 2
likely pathogenic 2 0 3 0 0
uncertain significance 6 3 0 12 9
likely benign 2 0 12 0 12
benign 2 0 9 12 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_033337.2(CAV3):c.117G>C (p.Val39=) rs753959620
NM_033337.2(CAV3):c.123T>C (p.Phe41=) rs13087941
NM_033337.2(CAV3):c.137C>T (p.Ala46Val) rs116840773
NM_033337.2(CAV3):c.166G>A (p.Gly56Ser) rs72546667
NM_033337.2(CAV3):c.168C>T (p.Gly56=) rs116840774
NM_033337.2(CAV3):c.171G>A (p.Val57=) rs61147808
NM_033337.2(CAV3):c.191C>G (p.Thr64Ser) rs121909280
NM_033337.2(CAV3):c.201C>A (p.Val67=) rs201593267
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_033337.2(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_033337.2(CAV3):c.234G>A (p.Thr78=) rs148846096
NM_033337.2(CAV3):c.260T>C (p.Leu87Pro) rs28936685
NM_033337.2(CAV3):c.276C>T (p.Phe92=) rs72546669
NM_033337.2(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033337.2(CAV3):c.277G>T (p.Ala93Ser) rs28936686
NM_033337.2(CAV3):c.290_292delTCT (p.Phe97del) rs199476335
NM_033337.2(CAV3):c.336C>T (p.Ile112=) rs139985460
NM_033337.2(CAV3):c.384C>T (p.Phe128=) rs773934743
NM_033337.2(CAV3):c.399C>T (p.Phe133=) rs769859957
NM_033337.2(CAV3):c.402G>A (p.Ala134=) rs559206877
NM_033337.2(CAV3):c.402G>C (p.Ala134=) rs559206877
NM_033337.2(CAV3):c.417C>T (p.Val139=) rs147250678
NM_033337.2(CAV3):c.442C>T (p.Arg148Trp) rs730880422
NM_033337.2(CAV3):c.443G>A (p.Arg148Gln) rs140575619

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