ClinVar Miner

Variants with conflicting interpretations studied for Retinoblastoma

Coded as:
Minimum review status of the submission for Retinoblastoma: Y axis collection method of the submission for Retinoblastoma:
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
428 54 2 32 24 0 3 54

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
Retinoblastoma pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 14 3 1 0
likely pathogenic 6 0 0 0 0
uncertain significance 1 0 2 10 9
likely benign 0 0 7 0 17
benign 0 0 0 3 0

Condition to condition summary #

Total conditions: 7
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 18 2 20 18 0 2 37
Hereditary cancer-predisposing syndrome 0 51 0 11 5 0 1 17
Retinoblastoma 509 17 0 8 1 0 1 10
not specified 0 13 0 8 2 0 0 10
Neoplasm 0 0 0 2 0 0 0 2
Breast-ovarian cancer, familial 2 0 0 0 0 1 0 0 1
Vulvar adenocarcinoma of mammary gland type 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 54
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.7109G>T (p.Gly2370Val) rs140079759
NM_000059.3(BRCA2):c.8972G>A (p.Arg2991His) rs80359150
NM_000321.2(RB1):c.-69G>C rs753117180
NM_000321.2(RB1):c.1049+1G>A rs587776782
NM_000321.2(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.2(RB1):c.1129A>T (p.Thr377Ser) rs146897002
NM_000321.2(RB1):c.113G>A (p.Gly38Asp) rs766529534
NM_000321.2(RB1):c.1140C>T (p.Asn380=) rs117865557
NM_000321.2(RB1):c.1156A>G (p.Met386Val) rs564780653
NM_000321.2(RB1):c.1306C>A (p.Gln436Lys) rs4151534
NM_000321.2(RB1):c.1363C>T (p.Arg455Ter) rs121913302
NM_000321.2(RB1):c.1390-11A>G rs200658795
NM_000321.2(RB1):c.1390-14A>T rs9535023
NM_000321.2(RB1):c.1390-2A>G rs1555286568
NM_000321.2(RB1):c.1421+12_1421+32del rs587781256
NM_000321.2(RB1):c.1436_1438ACA[1] (p.Asn480del) rs587776788
NM_000321.2(RB1):c.1472T>C (p.Leu491Pro) rs587778848
NM_000321.2(RB1):c.1574C>G (p.Ala525Gly) rs4151539
NM_000321.2(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.2(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.2(RB1):c.1696-4A>G rs143685082
NM_000321.2(RB1):c.1707A>G (p.Leu569=) rs3092895
NM_000321.2(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.2(RB1):c.1770T>C (p.Cys590=) rs145310579
NM_000321.2(RB1):c.1814+3A>G rs376886420
NM_000321.2(RB1):c.1960+5G>A rs587778871
NM_000321.2(RB1):c.1961-12T>C rs201697122
NM_000321.2(RB1):c.1973C>A (p.Ala658Asp) rs587778834
NM_000321.2(RB1):c.1981C>T (p.Arg661Trp) rs137853294
NM_000321.2(RB1):c.2003G>A (p.Arg668His) rs551747882
NM_000321.2(RB1):c.2106+8A>G rs750581965
NM_000321.2(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.2(RB1):c.2360G>A (p.Arg787Gln) rs748094394
NM_000321.2(RB1):c.2518G>A (p.Gly840Arg) rs374157786
NM_000321.2(RB1):c.2521-11G>A rs4151624
NM_000321.2(RB1):c.2566G>A (p.Asp856Asn) rs149359120
NM_000321.2(RB1):c.2652A>C (p.Glu884Asp) rs765537411
NM_000321.2(RB1):c.380+10C>G rs187110786
NM_000321.2(RB1):c.380+12T>C rs3092881
NM_000321.2(RB1):c.409G>T (p.Glu137Ter) rs121913296
NM_000321.2(RB1):c.411A>T (p.Glu137Asp) rs3092902
NM_000321.2(RB1):c.42C>T (p.Ala14=) rs148980395
NM_000321.2(RB1):c.59C>T (p.Pro20Leu) rs587778637
NM_000321.2(RB1):c.608-4del rs762805947
NM_000321.2(RB1):c.69_71GCC[3] (p.Pro29del) rs587778823
NM_000321.2(RB1):c.731T>C (p.Ile244Thr) rs147754935
NM_000321.2(RB1):c.784C>T (p.Arg262Trp) rs556201144
NM_000321.2(RB1):c.920C>T (p.Thr307Ile) rs183898408
NM_000321.2(RB1):c.929G>A (p.Gly310Glu) rs200844292
NM_000321.2(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_000455.4(STK11):c.992G>A (p.Arg331Gln) rs371264852
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val) rs201979616
NM_004364.4(CEBPA):c.667G>A (p.Gly223Ser) rs535980233
NM_005767.6(LPAR6):c.921G>T (p.Trp307Cys)

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