ClinVar Miner

Variants with conflicting interpretations studied for Benign familial hematuria

Coded as:
Minimum review status of the submission for Benign familial hematuria: Collection method of the submission for Benign familial hematuria:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
37 16 0 15 4 0 12 26

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.

All conditions
Benign familial hematuria pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 6 4 0 0
likely pathogenic 12 0 8 0 0
uncertain significance 1 3 0 2 2

Condition to condition summary #

Total conditions: 7
Download table as spreadsheet
Condition 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
not provided 0 14 0 13 4 0 10 24
Benign familial hematuria 72 2 0 3 0 0 2 5
COL4A3-related condition 0 0 0 2 0 0 0 2
COL4A4-related condition 0 4 0 1 1 0 0 2
not specified 0 1 0 1 0 0 1 2
COL4A4-related disorder 0 0 0 1 0 0 0 1
Microscopic hematuria 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.2629C>T (p.Arg877Trp) rs55948916 0.00026
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_000092.5(COL4A4):c.4151C>T (p.Ala1384Val) rs199911379 0.00006
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg) rs370474706 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00004
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val) rs121912827 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg) rs1457269547 0.00001
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu) rs781660254 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000092.5(COL4A4):c.735G>A (p.Pro245=) rs923865420 0.00001
NM_000091.5(COL4A3):c.2498G>A (p.Gly833Asp) rs779489401
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu) rs121912826
NM_000092.5(COL4A4):c.193-2A>C rs2125038490
NM_000092.5(COL4A4):c.2654G>A (p.Gly885Asp) rs1425028482
NM_000092.5(COL4A4):c.2734G>C (p.Gly912Arg) rs1553640846
NM_000092.5(COL4A4):c.4082-1G>T rs1559438651
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.71+1del rs2125387640
NM_000092.5(COL4A4):c.736-13dup rs750699545
NM_000092.5(COL4A4):c.736-4del rs750699545
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519

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