ClinVar Miner

Variants in gene LARGE1 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
127 58 0 24 13 0 1 31

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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 1 0 0
uncertain significance 1 0 13 7
likely benign 0 13 0 24
benign 0 7 24 0

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_004737.5(LARGE1):c.1776G>T (p.Met592Ile) rs576967464
NM_004737.6(LARGE1):c.-31G>A rs117199378
NM_004737.6(LARGE1):c.-63C>T rs16992986
NM_004737.6(LARGE1):c.1008T>C (p.Asp336=) rs115076367
NM_004737.6(LARGE1):c.1092C>T (p.Thr364=) rs144216539
NM_004737.6(LARGE1):c.1452-28C>T rs76647066
NM_004737.6(LARGE1):c.1548C>T (p.Tyr516=) rs34292743
NM_004737.6(LARGE1):c.1599C>T (p.Ile533=) rs12627793
NM_004737.6(LARGE1):c.1611G>A (p.Glu537=) rs372629986
NM_004737.6(LARGE1):c.163A>G (p.Thr55Ala) rs34642406
NM_004737.6(LARGE1):c.1644C>T (p.Asn548=) rs113253213
NM_004737.6(LARGE1):c.165G>C (p.Thr55=) rs63446460
NM_004737.6(LARGE1):c.1731-24T>C rs73399532
NM_004737.6(LARGE1):c.1788G>A (p.Ala596=) rs74550830
NM_004737.6(LARGE1):c.1792G>A (p.Glu598Lys) rs144045461
NM_004737.6(LARGE1):c.1827A>G (p.Ser609=) rs11913417
NM_004737.6(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520
NM_004737.6(LARGE1):c.1962G>A (p.Glu654=) rs141089495
NM_004737.6(LARGE1):c.1994G>A (p.Arg665His) rs1046166
NM_004737.6(LARGE1):c.2073+36C>T rs41302579
NM_004737.6(LARGE1):c.2100C>T (p.Asn700=) rs17722172
NM_004737.6(LARGE1):c.210C>T (p.Arg70=) rs145048151
NM_004737.6(LARGE1):c.251G>C (p.Ser84Thr) rs398124184
NM_004737.6(LARGE1):c.309C>T (p.Ser103=) rs59349720
NM_004737.6(LARGE1):c.391G>A (p.Val131Ile) rs56239539
NM_004737.6(LARGE1):c.408+8G>A rs141818070
NM_004737.6(LARGE1):c.435C>T (p.Ala145=) rs86487
NM_004737.6(LARGE1):c.552G>A (p.Thr184=) rs8142483
NM_004737.6(LARGE1):c.576C>T (p.Pro192=) rs36002910
NM_004737.6(LARGE1):c.615+8C>T rs587783731
NM_004737.6(LARGE1):c.892+50C>T rs62225294

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