ClinVar Miner

Variants with conflicting interpretations studied for Abnormality of brain morphology

Coded as:
Minimum review status of the submission for Abnormality of brain morphology: Y axis collection method of the submission for Abnormality of brain morphology:
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
71 6 0 3 1 0 13 16

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
Abnormality of brain morphology pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 3 0 6 4 7
uncertain significance 0 1 0 1 0

Condition to condition summary #

Total conditions: 6
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
not provided 0 4 0 3 1 0 8 11
not specified 0 0 0 0 0 0 7 7
History of neurodevelopmental disorder 0 0 0 0 0 0 2 2
Abnormality of brain morphology 92 0 0 0 0 0 1 1
Seizures 0 0 0 0 0 0 1 1
Spastic paraplegia 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_000153.4(GALC):c.1162-4del rs11300320
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650
NM_001163817.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_005634.2(SOX3):c.157G>C (p.Val53Leu) rs200361128
NM_013438.5(UBQLN1):c.377del (p.Asn126fs) rs1060499753
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_016952.4(CDON):c.3395C>T (p.Pro1132Leu) rs754025360
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646
NM_018245.3(OGDHL):c.2333C>T (p.Ser778Leu) rs773888308
NM_021150.4(GRIP1):c.160G>A (p.Val54Ile) rs199768740
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn) rs773618224
NM_022835.3(PLEKHG2):c.1708G>A (p.Gly570Arg) rs370673772
NM_182961.4(SYNE1):c.19692+3G>A rs150304757

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