ClinVar Miner

Variants in gene PROM1 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
880 65 0 17 20 0 5 39

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 9 5 0 0
likely pathogenic 9 0 2 0 0
uncertain significance 5 2 0 16 5
likely benign 0 0 16 0 8
benign 0 0 5 8 0

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) rs113895168 0.00322
NM_006017.3(PROM1):c.1977C>T (p.Asn659=) rs149028760 0.00222
NM_006017.3(PROM1):c.1579-6T>C rs181261277 0.00190
NM_006017.3(PROM1):c.1345G>A (p.Val449Met) rs200620291 0.00152
NM_006017.3(PROM1):c.2454C>T (p.Tyr818=) rs147880953 0.00100
NM_006017.3(PROM1):c.103G>C (p.Glu35Gln) rs200290535 0.00095
NM_006017.3(PROM1):c.134A>G (p.Asp45Gly) rs201559220 0.00095
NM_006017.3(PROM1):c.714A>G (p.Gly238=) rs201662148 0.00088
NM_006017.3(PROM1):c.1469G>A (p.Ser490Asn) rs201027172 0.00069
NM_006017.3(PROM1):c.1610A>G (p.Asp537Gly) rs200545555 0.00065
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) rs62617075 0.00065
NM_006017.3(PROM1):c.914C>T (p.Pro305Leu) rs142245630 0.00048
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_006017.3(PROM1):c.2271C>T (p.Ile757=) rs375986111 0.00022
NM_006017.3(PROM1):c.181A>G (p.Ile61Val) rs201701647 0.00021
NM_006017.3(PROM1):c.2490-2A>G rs375813885 0.00011
NM_006017.3(PROM1):c.2319C>T (p.Thr773=) rs185335345 0.00009
NM_006017.3(PROM1):c.376G>A (p.Val126Met) rs199556426 0.00009
NM_006017.3(PROM1):c.1276dup (p.Thr426fs) rs747800874 0.00008
NM_006017.3(PROM1):c.321A>C (p.Ala107=) rs371975235 0.00008
NM_006017.3(PROM1):c.1301+3G>A rs373623517 0.00006
NM_006017.3(PROM1):c.1344C>T (p.Ile448=) rs147174580 0.00005
NM_006017.3(PROM1):c.1301+2T>C rs775957498 0.00004
NM_006017.3(PROM1):c.1209_1229del (p.Gln403_Ser410delinsHis) rs777497868 0.00001
NM_006017.3(PROM1):c.1320C>T (p.Val440=) rs765602610 0.00001
NM_006017.3(PROM1):c.1579-1G>C rs372513650 0.00001
NM_006017.3(PROM1):c.1856A>G (p.Gln619Arg) rs905919709 0.00001
NM_006017.3(PROM1):c.2130+2del rs768303070 0.00001
NM_006017.3(PROM1):c.2309C>A (p.Pro770His) rs568361529 0.00001
NM_006017.3(PROM1):c.677C>T (p.Ala226Val) rs376198840 0.00001
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1234del (p.Tyr412fs) rs1460604134
NM_006017.3(PROM1):c.1301+1G>A
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.1578+1G>A rs1553901823
NM_006017.3(PROM1):c.2374-14dup rs370477050
NM_006017.3(PROM1):c.2374-5dup rs34269395
NM_006017.3(PROM1):c.2514-4A>G rs1236769724
NM_006017.3(PROM1):c.879C>T (p.Ser293=) rs148242593

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