ClinVar Miner

Variants with conflicting interpretations studied for Seckel syndrome

Coded as:
Minimum review status of the submission for Seckel syndrome: Y axis collection method of the submission for Seckel syndrome:
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
34 130 0 44 53 0 1 98

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
Seckel syndrome pathogenic likely benign benign
uncertain significance 1 44 26
likely benign 0 0 39
benign 0 5 0

Condition to condition summary #

Total conditions: 4
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 19 0 40 34 0 0 74
not provided 0 14 0 24 43 0 0 67
Primary autosomal recessive microcephaly 6 0 6 0 3 0 0 0 3
Carcinoma of pancreas 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 98
Download table as spreadsheet
HGVS dbSNP
NM_001184.4(ATR):c.-29_-9delinsT rs886058060
NM_001184.4(ATR):c.1326A>G (p.Lys442=) rs28897765
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930
NM_001184.4(ATR):c.1885+7G>A rs74282951
NM_001184.4(ATR):c.190A>G (p.Thr64Ala) rs35306038
NM_001184.4(ATR):c.1950G>A (p.Glu650=) rs28910270
NM_001184.4(ATR):c.2205C>T (p.His735=) rs148955716
NM_001184.4(ATR):c.2226T>C (p.Cys742=) rs147895945
NM_001184.4(ATR):c.2442A>G (p.Glu814=) rs55895932
NM_001184.4(ATR):c.2688G>A (p.Leu896=) rs117926957
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu) rs141783863
NM_001184.4(ATR):c.2875G>A (p.Val959Met) rs28910271
NM_001184.4(ATR):c.3120G>A (p.Leu1040=) rs28910272
NM_001184.4(ATR):c.3241C>T (p.Leu1081=) rs139173669
NM_001184.4(ATR):c.325C>T (p.Arg109Trp) rs146405935
NM_001184.4(ATR):c.3642T>C (p.His1214=) rs139078985
NM_001184.4(ATR):c.4002G>A (p.Gln1334=) rs56026468
NM_001184.4(ATR):c.4153-21dup rs112116713
NM_001184.4(ATR):c.423T>C (p.Ile141=) rs10935466
NM_001184.4(ATR):c.4323A>G (p.Gln1441=) rs56100509
NM_001184.4(ATR):c.4677C>T (p.Asp1559=) rs112726878
NM_001184.4(ATR):c.4764C>T (p.Leu1588=) rs142240637
NM_001184.4(ATR):c.4820G>A (p.Ser1607Asn) rs55724025
NM_001184.4(ATR):c.4835A>G (p.Asn1612Ser) rs55894265
NM_001184.4(ATR):c.5208T>C (p.Tyr1736=) rs2227931
NM_001184.4(ATR):c.5460T>C (p.Tyr1820=) rs2227932
NM_001184.4(ATR):c.5868C>T (p.Tyr1956=) rs112018640
NM_001184.4(ATR):c.59+4G>A rs758046042
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr) rs150339560
NM_001184.4(ATR):c.632T>C (p.Met211Thr) rs2227928
NM_001184.4(ATR):c.6339A>G (p.Val2113=) rs7635479
NM_001184.4(ATR):c.7274G>A (p.Arg2425Gln) rs2229032
NM_001184.4(ATR):c.7300C>G (p.Pro2434Ala) rs33972295
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904
NM_001184.4(ATR):c.946G>A (p.Val316Ile) rs28897764
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720
NM_001194998.2(CEP152):c.1577+6G>A rs78525896
NM_001194998.2(CEP152):c.161C>T (p.Ser54Leu) rs2289181
NM_001194998.2(CEP152):c.191+11G>A rs75503597
NM_001194998.2(CEP152):c.2019-13G>A rs9302144
NM_001194998.2(CEP152):c.2262G>A (p.Glu754=) rs149176738
NM_001194998.2(CEP152):c.2378G>T (p.Ser793Ile) rs2289178
NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe) rs145138194
NM_001194998.2(CEP152):c.2740C>G (p.Leu914Val) rs16961560
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val) rs117557829
NM_001194998.2(CEP152):c.2804A>G (p.Gln935Arg) rs74245641
NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142
NM_001194998.2(CEP152):c.3313C>G (p.Leu1105Val) rs74553953
NM_001194998.2(CEP152):c.3317T>C (p.Val1106Ala) rs16961557
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277
NM_001194998.2(CEP152):c.3780G>C (p.Gly1260=) rs199777941
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) rs149478199
NM_001194998.2(CEP152):c.4094-9A>T rs80090788
NM_001194998.2(CEP152):c.4175T>C (p.Ile1392Thr) rs186930123
NM_001194998.2(CEP152):c.4299T>C (p.His1433=) rs114085678
NM_001194998.2(CEP152):c.4857T>C (p.Asp1619=) rs74986073
NM_001194998.2(CEP152):c.4914A>G (p.Pro1638=) rs150910683
NM_001194998.2(CEP152):c.4T>A (p.Ser2Thr) rs374200686
NM_001194998.2(CEP152):c.5078C>T (p.Pro1693Leu) rs368764302
NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn) rs200957146
NM_001194998.2(CEP152):c.691+9C>T rs77732888
NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr) rs201217824
NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln) rs199862615
NM_002894.3(RBBP8):c.1009A>G (p.Lys337Glu) rs121434388
NM_002894.3(RBBP8):c.1071A>C (p.Lys357Asn) rs34678569
NM_002894.3(RBBP8):c.1290T>A (p.Thr430=) rs74565999
NM_002894.3(RBBP8):c.1367A>G (p.His456Arg) rs139743319
NM_002894.3(RBBP8):c.1632G>A (p.Thr544=) rs371151302
NM_002894.3(RBBP8):c.1644T>C (p.Asp548=) rs34780140
NM_002894.3(RBBP8):c.1902T>C (p.Cys634=) rs201620586
NM_002894.3(RBBP8):c.1939+12A>G rs60178443
NM_002894.3(RBBP8):c.2115G>A (p.Lys705=) rs17852769
NM_002894.3(RBBP8):c.736C>G (p.Pro246Ala) rs34372414
NM_002894.3(RBBP8):c.891A>G (p.Glu297=) rs140403315
NM_018451.5(CENPJ):c.1021T>G (p.Tyr341Asp) rs143258862
NM_018451.5(CENPJ):c.1233G>A (p.Pro411=) rs112133852
NM_018451.5(CENPJ):c.1560A>T (p.Thr520=) rs17081368
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216
NM_018451.5(CENPJ):c.1881G>A (p.Pro627=) rs75985315
NM_018451.5(CENPJ):c.1960G>A (p.Ala654Thr) rs140927921
NM_018451.5(CENPJ):c.2031C>T (p.Ala677=) rs61729909
NM_018451.5(CENPJ):c.2298T>A (p.Asp766Glu) rs79951875
NM_018451.5(CENPJ):c.253C>A (p.Pro85Thr) rs9511510
NM_018451.5(CENPJ):c.2571C>G (p.Ser857Arg) rs78628025
NM_018451.5(CENPJ):c.2635T>G (p.Ser879Ala) rs17402892
NM_018451.5(CENPJ):c.2806A>G (p.Ser936Gly) rs75008861
NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg) rs138675304
NM_018451.5(CENPJ):c.287A>G (p.His96Arg) rs61739263
NM_018451.5(CENPJ):c.2992-17dup rs35599563
NM_018451.5(CENPJ):c.3367-12T>C rs3742163
NM_018451.5(CENPJ):c.3619-12G>T rs527997591
NM_018451.5(CENPJ):c.3960C>T (p.Ser1320=) rs113239817
NM_018451.5(CENPJ):c.61A>T (p.Met21Leu) rs35498994
NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg) rs143260721
NM_018451.5(CENPJ):c.656C>T (p.Pro219Leu) rs139844197
NM_018451.5(CENPJ):c.68A>G (p.Asn23Ser) rs116981543

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.