ClinVar Miner

Variants with conflicting interpretations studied for Cone-Rod Dystrophy, Dominant

Coded as:
Minimum review status of the submission for Cone-Rod Dystrophy, Dominant: Y axis collection method of the submission for Cone-Rod Dystrophy, Dominant:
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
205 258 2 34 9 0 3 44

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
Cone-Rod Dystrophy, Dominant pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 0 1 0 1 0
likely benign 2 1 8 2 34

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 specified 0 18 0 33 1 0 0 34
not provided 0 28 2 5 7 0 2 14
Retinitis pigmentosa 0 1 0 0 3 0 0 3
Cone-rod dystrophy 5 0 0 0 0 1 0 1 1
Cone-rod dystrophy 7 0 0 0 1 0 0 0 1
Immunodeficiency 13 0 1 0 0 0 0 1 1
Leber congenital amaurosis 7; Cone-rod dystrophy 2 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 44
Download table as spreadsheet
HGVS dbSNP
NM_000322.5(PRPH2):c.*13C>T rs361524
NM_000322.5(PRPH2):c.-11A>C rs114062933
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439
NM_000322.5(PRPH2):c.801C>T (p.Val267=) rs189358082
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876
NM_000554.6(CRX):c.253-15G>A rs145805694
NM_000554.6(CRX):c.28C>G (p.His10Asp) rs139340178
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445
NM_001145847.2(PROM1):c.129C>T (p.Thr43=) rs10033086
NM_001145847.2(PROM1):c.15C>T (p.Leu5=) rs10033189
NM_001145847.2(PROM1):c.1741-5C>T rs55708318
NM_001145847.2(PROM1):c.1950C>T (p.Asn650=) rs149028760
NM_001145847.2(PROM1):c.1956+14G>A rs4698436
NM_001145847.2(PROM1):c.228G>A (p.Leu76=) rs76963591
NM_001145847.2(PROM1):c.2347-5dup rs34269395
NM_001145847.2(PROM1):c.55T>G (p.Ser19Ala) rs189108830
NM_001145847.2(PROM1):c.577C>G (p.Arg193Gly) rs140872693
NM_001145847.2(PROM1):c.759G>A (p.Ala253=) rs2286455
NM_001145847.2(PROM1):c.841A>C (p.Ser281Arg) rs182096110
NM_014989.5(RIMS1):c.1776G>A (p.Glu592=) rs77121218
NM_014989.5(RIMS1):c.2670T>C (p.His890=) rs34821160
NM_014989.5(RIMS1):c.2699-8T>C rs149883454
NM_014989.5(RIMS1):c.2895G>A (p.Pro965=) rs41265493
NM_014989.5(RIMS1):c.28C>T (p.Pro10Ser) rs200935038
NM_014989.5(RIMS1):c.3470C>T (p.Pro1157Leu) rs41265501
NM_014989.5(RIMS1):c.648G>A (p.Ser216=) rs116303981
NM_014989.5(RIMS1):c.743C>T (p.Ser248Leu) rs116476753
NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met) rs139119218
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428
NM_031220.4(PITPNM3):c.226+9C>G rs145880642
NM_031220.4(PITPNM3):c.477C>T (p.Ser159=) rs34897053
NM_031220.4(PITPNM3):c.49C>T (p.Pro17Ser) rs28493751
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile) rs61755430
NM_031220.4(PITPNM3):c.699C>T (p.Val233=) rs149964592
NM_031220.4(PITPNM3):c.901-10G>C rs77580616
NM_031220.4(PITPNM3):c.987G>A (p.Leu329=) rs148451236
NM_032753.4(RAX2):c.155C>T (p.Pro52Leu) rs76076446
NM_032753.4(RAX2):c.156G>A (p.Pro52=) rs141804618
NM_032753.4(RAX2):c.432G>A (p.Ala144=) rs149918940
NM_032753.4(RAX2):c.45T>G (p.Gly15=) rs139127905
NM_054035.2(UNC119):c.65G>T (p.Gly22Val) rs199714731

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