ClinVar Miner

Variants in gene DTNA 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
212 28 0 13 11 0 0 22

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
uncertain significance 0 11 2
likely benign 11 0 13
benign 2 13 0

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_001390.4(DTNA):c.1000G>A (p.Val334Ile) rs148123045
NM_001390.4(DTNA):c.1011-6T>C rs200208281
NM_001390.4(DTNA):c.1094+1403A>C rs191973037
NM_001390.4(DTNA):c.1095-8T>C rs41274310
NM_001390.4(DTNA):c.1216C>T (p.His406Tyr) rs139872140
NM_001390.4(DTNA):c.1249C>T (p.Arg417Trp) rs199867593
NM_001390.4(DTNA):c.1373G>C (p.Ser458Thr) rs190619495
NM_001390.4(DTNA):c.1399G>A (p.Asp467Asn) rs144880521
NM_001390.4(DTNA):c.1404G>A (p.Ala468=) rs397517443
NM_001390.4(DTNA):c.1663-10G>A rs192561043
NM_001390.4(DTNA):c.1663-10G>T rs192561043
NM_001390.4(DTNA):c.1794G>A (p.Gly598=) rs542483546
NM_001390.4(DTNA):c.1958G>A (p.Arg653Gln) rs138143719
NM_001390.4(DTNA):c.2027G>A (p.Arg676Gln) rs142009291
NM_001390.4(DTNA):c.2081+14G>A rs76713874
NM_001390.4(DTNA):c.210G>A (p.Leu70=) rs117571555
NM_001390.4(DTNA):c.243A>G (p.Leu81=) rs146923532
NM_001390.4(DTNA):c.476G>A (p.Ser159Asn) rs147115867
NM_001390.4(DTNA):c.537G>A (p.Thr179=) rs11877640
NM_001390.4(DTNA):c.604-14G>T rs397517447
NM_001390.4(DTNA):c.68-7G>A rs372126412
NM_001390.4(DTNA):c.955A>G (p.Met319Val) rs141981161

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