ClinVar Miner

Variants with conflicting interpretations studied for Primary autosomal recessive microcephaly 5

Coded as:
Minimum review status of the submission for Primary autosomal recessive microcephaly 5: Y axis collection method of the submission for Primary autosomal recessive microcephaly 5:
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
141 53 25 19 24 0 1 65

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
Primary autosomal recessive microcephaly 5 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 25 3 1 1 1
likely pathogenic 2 0 0 0 0
uncertain significance 1 0 0 19 8
likely benign 0 0 4 0 2
benign 0 0 2 14 0

Condition to condition summary #

Total conditions: 5
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 21 0 9 17 0 1 26
Primary autosomal recessive microcephaly 5 213 22 19 2 2 0 1 24
not provided 0 44 13 4 6 0 1 23
Primary Microcephaly, Recessive 0 32 0 6 4 0 1 10
Microcephaly 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 65
Download table as spreadsheet
HGVS dbSNP
NM_018136.4(ASPM):c.-110C>T rs74981632
NM_018136.4(ASPM):c.1007C>A (p.Thr336Lys) rs112113370
NM_018136.4(ASPM):c.10331+8A>G rs10754213
NM_018136.4(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.4(ASPM):c.1154_1155delAG (p.Glu385Valfs) rs199422137
NM_018136.4(ASPM):c.1179delT (p.Asn394Ilefs) rs199422138
NM_018136.4(ASPM):c.1260_1266delTCAAGTC (p.Gln421Hisfs) rs199422139
NM_018136.4(ASPM):c.1288A>G (p.Arg430Gly) rs6428388
NM_018136.4(ASPM):c.1631_1635delATCTT (p.Tyr544Serfs) rs199422144
NM_018136.4(ASPM):c.1729_1730delAG (p.Ser577Argfs) rs199422146
NM_018136.4(ASPM):c.1959_1962delCAAA (p.Asn653Lysfs) rs199422147
NM_018136.4(ASPM):c.1977T>C (p.Ile659=) rs17550662
NM_018136.4(ASPM):c.2174-20T>C rs4915344
NM_018136.4(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.4(ASPM):c.2914T>G (p.Leu972Val) rs552158003
NM_018136.4(ASPM):c.3138G>A (p.Arg1046=) rs6676084
NM_018136.4(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081
NM_018136.4(ASPM):c.349C>T (p.Arg117Ter) rs137852996
NM_018136.4(ASPM):c.3579T>A (p.Ser1193=) rs4915337
NM_018136.4(ASPM):c.3599-4A>G rs149303254
NM_018136.4(ASPM):c.3710C>G (p.Ser1237Ter) rs199422159
NM_018136.4(ASPM):c.3742-10T>G rs41299587
NM_018136.4(ASPM):c.3796G>T (p.Glu1266Ter) rs199422161
NM_018136.4(ASPM):c.3811C>T (p.Arg1271Ter) rs140602858
NM_018136.4(ASPM):c.3960C>T (p.Leu1320=) rs148964635
NM_018136.4(ASPM):c.3978G>A (p.Trp1326Ter) rs137852995
NM_018136.4(ASPM):c.4195dupA (p.Thr1399Asnfs) rs199422163
NM_018136.4(ASPM):c.441+14C>T rs1571964
NM_018136.4(ASPM):c.4733G>A (p.Arg1578Gln) rs143822761
NM_018136.4(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.4(ASPM):c.5224T>C (p.Tyr1742His) rs143733126
NM_018136.4(ASPM):c.5510G>A (p.Gly1837Asp) rs144969324
NM_018136.4(ASPM):c.577C>T (p.Gln193Ter) rs199422134
NM_018136.4(ASPM):c.5947A>T (p.Met1983Leu) rs141715950
NM_018136.4(ASPM):c.6125A>G (p.Asp2042Gly) rs150327858
NM_018136.4(ASPM):c.6189T>G (p.Tyr2063Ter) rs137852997
NM_018136.4(ASPM):c.6337_6338delAT (p.Ile2113Serfs) rs199422169
NM_018136.4(ASPM):c.646G>A (p.Glu216Lys) rs151050191
NM_018136.4(ASPM):c.6717G>C (p.Leu2239=) rs147100928
NM_018136.4(ASPM):c.6916_6919delTTAC (p.Leu2306Serfs) rs1064795945
NM_018136.4(ASPM):c.719_720delCT (p.Ser240Cysfs) rs199422135
NM_018136.4(ASPM):c.7551T>C (p.Tyr2517=) rs149228705
NM_018136.4(ASPM):c.7554A>G (p.Arg2518=) rs140248383
NM_018136.4(ASPM):c.7566A>G (p.Leu2522=) rs1412640
NM_018136.4(ASPM):c.7761T>G (p.Tyr2587Ter) rs189678019
NM_018136.4(ASPM):c.7782_7783delGA (p.Lys2595Serfs) rs199422173
NM_018136.4(ASPM):c.7860G>C (p.Gln2620His) rs12138336
NM_018136.4(ASPM):c.8203T>G (p.Phe2735Val) rs372416792
NM_018136.4(ASPM):c.844A>C (p.Asn282His) rs113777932
NM_018136.4(ASPM):c.849C>T (p.Ser283=) rs6677082
NM_018136.4(ASPM):c.8741T>C (p.Ile2914Thr) rs200856894
NM_018136.4(ASPM):c.905G>A (p.Cys302Tyr) rs77736715
NM_018136.4(ASPM):c.9159delA (p.Lys3053Asnfs) rs199422184
NM_018136.4(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994
NM_018136.4(ASPM):c.9190C>T (p.Arg3064Ter) rs199422185
NM_018136.4(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436
NM_018136.4(ASPM):c.933C>G (p.Ser311Arg) rs563858170
NM_018136.4(ASPM):c.937A>G (p.Ile313Val) rs12025066
NM_018136.4(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130
NM_018136.4(ASPM):c.9557C>G (p.Ser3186Ter) rs199422189
NM_018136.4(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194
NM_018136.4(ASPM):c.9730C>T (p.Arg3244Ter) rs199422195
NM_018136.4(ASPM):c.9773A>G (p.His3258Arg) rs7528827
NM_018136.4(ASPM):c.9911G>A (p.Arg3304Gln) rs149859034
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg) rs36004306

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.