ClinVar Miner

Variants with conflicting interpretations studied for Bardet-Biedl syndrome 12

Coded as:
Minimum review status of the submission for Bardet-Biedl syndrome 12: Collection method of the submission for Bardet-Biedl syndrome 12:
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 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
132 76 0 17 7 0 6 29

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 12 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 13 1 0 0
likely pathogenic 13 0 5 0 0
uncertain significance 1 5 0 6 2
likely benign 0 0 6 0 4
benign 0 0 2 4 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
Bardet-Biedl syndrome 12 132 76 0 17 7 0 6 29

All variants with conflicting interpretations #

Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085 0.00439
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu) rs147281546 0.00047
NM_152618.3(BBS12):c.1257C>T (p.Ser419=) rs34652786 0.00025
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala) rs145392789 0.00022
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 0.00020
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_152618.3(BBS12):c.1995T>C (p.Val665=) rs771980986 0.00004
NM_152618.3(BBS12):c.1A>C (p.Met1Leu) rs750366365 0.00004
NM_152618.3(BBS12):c.2100T>C (p.Asn700=) rs145847043 0.00004
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654 0.00004
NM_152618.3(BBS12):c.1092del (p.Glu365fs) rs770218590 0.00003
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter) rs1381368546 0.00001
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter) rs1269565757 0.00001
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala) rs1357690062 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro) rs121918328 0.00001
NM_152618.3(BBS12):c.1082del (p.Gly361fs) rs1057517193
NM_152618.3(BBS12):c.1372dup (p.Thr458fs) rs1195341481
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp) rs755314355
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs) rs2150737598
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs) rs1560708847
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter) rs1553941580
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772

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