ClinVar Miner

Variants with conflicting interpretations studied for Bardet-Biedl syndrome 1

Coded as:
Minimum review status of the submission for Bardet-Biedl syndrome 1: Y axis collection method of the submission for Bardet-Biedl syndrome 1:
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
47 28 0 42 9 0 3 49

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
Bardet-Biedl syndrome 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 5 1 0 0
likely pathogenic 4 0 0 0 0
uncertain significance 2 1 0 0 0
likely benign 0 0 7 0 16
benign 0 0 5 32 0

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
Bardet-Biedl syndrome 0 23 0 31 5 0 1 35
not specified 0 28 0 17 0 0 0 17
Bardet-Biedl syndrome 1 76 32 0 15 0 0 1 16
not provided 0 12 0 7 4 0 1 11
Bardet-Biedl syndrome 10 0 1 0 1 1 0 0 2
Bardet-Biedl syndrome 12 0 0 0 0 1 0 0 1
Retinal dystrophy 0 0 0 1 0 0 0 1
Retinitis pigmentosa 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 49
Download table as spreadsheet
HGVS dbSNP
NM_001178007.1(BBS12):c.1381A>C (p.Asn461His) rs10027479
NM_001178007.1(BBS12):c.1847G>A (p.Ser616Asn) rs28507107
NM_015910.6(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165
NM_015910.6(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468
NM_024649.4(BBS1):c.1072delT (p.Tyr358Ilefs) rs1057516533
NM_024649.4(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.4(BBS1):c.1349G>A (p.Arg450Gln) rs77298332
NM_024649.4(BBS1):c.1553T>C (p.Leu518Pro) rs121917778
NM_024649.4(BBS1):c.1645G>T (p.Glu549Ter) rs121917777
NM_024649.4(BBS1):c.1719A>G (p.Gln573=) rs150553044
NM_024649.4(BBS1):c.24T>C (p.Asp8=) rs55848325
NM_024649.4(BBS1):c.416G>A (p.Trp139Ter) rs878855095
NM_024649.4(BBS1):c.432+13C>T rs759287238
NM_024649.4(BBS1):c.432+1G>A rs587777829
NM_024649.4(BBS1):c.724-1G>C rs748523268
NM_024649.4(BBS1):c.951+1G>A rs746875134
NM_024649.4(BBS1):c.952G>A (p.Gly318Arg) rs1555048487
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279
NM_031885.3(BBS2):c.1413A>C (p.Val471=) rs35294865
NM_031885.3(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_031885.3(BBS2):c.1511C>T (p.Ala504Val) rs16957538
NM_031885.3(BBS2):c.1659+3A>G rs6499838
NM_031885.3(BBS2):c.612+12C>A rs77019529
NM_031885.3(BBS2):c.805-20A>G rs41280892
NM_033028.4(BBS4):c.1061T>C (p.Ile354Thr) rs2277598
NM_033028.4(BBS4):c.137A>G (p.Lys46Arg) rs75295839
NM_152618.2(BBS12):c.1062G>C (p.Val354=) rs34296401
NM_152618.2(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_152618.2(BBS12):c.1209G>A (p.Val403=) rs17006092
NM_152618.2(BBS12):c.1286G>C (p.Ser429Thr) rs7665271
NM_152618.2(BBS12):c.1380G>C (p.Val460=) rs13135766
NM_152618.2(BBS12):c.1399G>A (p.Asp467Asn) rs13135778
NM_152618.2(BBS12):c.1410C>T (p.Cys470=) rs13135445
NM_152618.2(BBS12):c.1451G>A (p.Arg484Lys) rs35690634
NM_152618.2(BBS12):c.1872A>G (p.Gln624=) rs13102440
NM_152618.2(BBS12):c.714T>G (p.Asn238Lys) rs17006082
NM_176824.2(BBS7):c.1505A>G (p.His502Arg) rs114718913
NM_176824.2(BBS7):c.1512-7A>T rs115987385
NM_198428.2(BBS9):c.1246G>A (p.Val416Met) rs61764067
NM_198428.2(BBS9):c.1363G>A (p.Ala455Thr) rs11773504
NM_198428.2(BBS9):c.1546C>A (p.Pro516Thr) rs73688160
NM_198428.2(BBS9):c.1562G>A (p.Arg521Gln) rs34218557
NM_198428.2(BBS9):c.1648A>G (p.Ile550Val) rs150399299
NM_198428.2(BBS9):c.1993C>T (p.Leu665Phe) rs116262072
NM_198428.2(BBS9):c.2216C>T (p.Ala739Val) rs116483694
NM_198428.2(BBS9):c.2299-20A>C rs17727583
NM_198428.2(BBS9):c.2632+9C>A rs148654647

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