ClinVar Miner

Variants in gene MERTK 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 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
332 28 1 4 6 0 2 13

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 3 0 0 0
likely pathogenic 3 1 2 0 0
uncertain significance 0 2 0 1 5
likely benign 0 0 1 0 1
benign 0 0 5 1 0

All variants with conflicting interpretations #

Total variants: 13
Download table as spreadsheet
NM_006343.3(MERTK):c.1261C>T (p.Arg421Trp) rs142985827
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) rs527236084
NM_006343.3(MERTK):c.1604+2T>G rs786205534
NM_006343.3(MERTK):c.2079+10del rs529766238
NM_006343.3(MERTK):c.2163T>A (p.His721Gln)
NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter) rs786205535
NM_006343.3(MERTK):c.2577_2578dup (p.Ser860fs)
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp) rs2230516
NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr) rs148261231
NM_006343.3(MERTK):c.325A>T (p.Lys109Ter) rs786205533
NM_006343.3(MERTK):c.584-5C>T rs747835003
NM_006343.3(MERTK):c.773C>A (p.Ala258Glu) rs35252762
NM_006343.3(MERTK):c.960+9C>A rs373198570

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