ClinVar Miner

Variants with conflicting interpretations studied for Alport syndrome, autosomal recessive

Coded as:
Minimum review status of the submission for Alport syndrome, autosomal recessive: Y axis collection method of the submission for Alport syndrome, autosomal recessive:
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 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
179 20 0 20 0 0 13 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.

All conditions
Alport syndrome, autosomal recessive pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 6 1 0
likely pathogenic 14 0 3 0
uncertain significance 2 7 0 0
benign 0 0 0 4

Condition to condition summary #

Total conditions: 8
Download table as spreadsheet
Condition 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
not provided 0 13 0 9 0 0 5 14
Alport syndrome 3, autosomal dominant 0 4 0 1 0 0 5 6
Alport syndrome 0 1 0 4 0 0 1 5
Alport syndrome, autosomal recessive 218 8 0 4 0 0 0 4
Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive; Benign familial hematuria 0 2 0 2 0 0 0 2
Benign familial hematuria 0 0 0 2 0 0 0 2
not specified 0 6 0 1 0 0 1 2
Hearing impairment; Myopia; Proteinuria; Hematuria; Hypertension 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_000091.4(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239
NM_000091.4(COL4A3):c.172G>A (p.Gly58Ser) rs184730597
NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451
NM_000091.4(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654
NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181
NM_000091.4(COL4A3):c.2954G>T (p.Gly985Val) rs121912827
NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745
NM_000091.4(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291
NM_000091.4(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500
NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.4(COL4A3):c.443G>T (p.Gly148Val) rs775373641
NM_000091.4(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.4(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590
NM_000091.4(COL4A3):c.4803del (p.Gly1602fs) rs760846085
NM_000091.4(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779
NM_000091.4(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000092.4(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860
NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985
NM_000092.4(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.4(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
NM_000092.4(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350
NM_000092.4(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863
NM_000092.4(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724
NM_000092.4(COL4A4):c.594+1G>A rs1553690565
NM_000092.4(COL4A4):c.948T>C (p.Tyr316=) rs34509421

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