ClinVar Miner

Variants in gene PDZD7 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 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
823 109 0 33 12 0 7 47

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 11 4 0 0
likely pathogenic 11 0 4 0 0
uncertain significance 4 4 0 12 2
likely benign 0 0 12 0 22
benign 0 0 2 22 0

All variants with conflicting interpretations #

Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) rs143414291 0.00754
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) rs112571971 0.00706
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=) rs144469613 0.00650
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu) rs118098246 0.00348
NM_001195263.2(PDZD7):c.168C>G (p.Arg56=) rs143731734 0.00251
NM_001195263.2(PDZD7):c.368-20A>G rs180764355 0.00241
NM_001195263.2(PDZD7):c.1905G>A (p.Glu635=) rs546907305 0.00204
NM_001195263.2(PDZD7):c.2719-9C>A rs184247824 0.00189
NM_001195263.2(PDZD7):c.2943T>C (p.Asp981=) rs569520095 0.00181
NM_001195263.2(PDZD7):c.2411C>T (p.Ala804Val) rs397516635 0.00180
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn) rs200592310 0.00176
NM_001195263.2(PDZD7):c.2538G>C (p.Gly846=) rs111750275 0.00173
NM_001195263.2(PDZD7):c.370C>T (p.Arg124Trp) rs114917863 0.00137
NM_001195263.2(PDZD7):c.2250G>T (p.Trp750Cys) rs759725715 0.00136
NM_001195263.2(PDZD7):c.324C>T (p.Gly108=) rs147133210 0.00115
NM_001195263.2(PDZD7):c.2357G>A (p.Arg786Gln) rs113570783 0.00098
NM_001195263.2(PDZD7):c.786C>T (p.Asn262=) rs148746572 0.00084
NM_001195263.2(PDZD7):c.156C>T (p.Asn52=) rs150917752 0.00061
NM_001195263.2(PDZD7):c.1942C>T (p.Pro648Ser) rs201727136 0.00039
NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu) rs141181035 0.00038
NM_001195263.2(PDZD7):c.3078C>T (p.Pro1026=) rs534463809 0.00015
NM_001195263.2(PDZD7):c.1653T>G (p.Val551=) rs773008252 0.00014
NM_001195263.2(PDZD7):c.1638T>C (p.Asn546=) rs760557332 0.00009
NM_001195263.2(PDZD7):c.1916C>G (p.Ala639Gly) rs528139723 0.00004
NM_001195263.2(PDZD7):c.1655dup (p.Ala553fs) rs1378470761 0.00001
NM_001195263.2(PDZD7):c.1722G>A (p.Val574=) rs919717592 0.00001
NM_001195263.2(PDZD7):c.2230C>A (p.Arg744=) rs565952913 0.00001
NM_001195263.2(PDZD7):c.2299C>T (p.Arg767Trp) rs562444438 0.00001
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) rs753034799 0.00001
NM_001195263.2(PDZD7):c.1011C>G (p.Tyr337Ter)
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del) rs555444131
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter) rs953422571
NM_001195263.2(PDZD7):c.1752T>C (p.Tyr584=) rs368563439
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu) rs1426679303
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001195263.2(PDZD7):c.2319TAGCCGCAGCCG[1] (p.773RS[4]) rs762000985
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) rs397516634
NM_001195263.2(PDZD7):c.2331_2348del (p.773_774RS[3]) rs727503369
NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del) rs397516636
NM_001195263.2(PDZD7):c.2692dup (p.Ala898fs) rs1177831852
NM_001195263.2(PDZD7):c.2796_2798del (p.Arg933del) rs770336804
NM_001195263.2(PDZD7):c.2850del (p.Ser953fs) rs1025144704
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg) rs148695069
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp) rs200664140
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg) rs1554835827
NM_001195263.2(PDZD7):c.925C>T (p.Arg309Ter)
NM_001195263.2(PDZD7):c.993C>A (p.Cys331Ter) rs1468599549

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