ClinVar Miner

Variants with conflicting interpretations studied for Beckwith-Wiedemann syndrome

Coded as:
Minimum review status of the submission for Beckwith-Wiedemann syndrome: Y axis collection method of the submission for Beckwith-Wiedemann 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
314 43 0 33 20 0 1 50

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
Beckwith-Wiedemann syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 0 1 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 5 2
likely benign 1 0 8 0 5
benign 0 0 5 26 0

Condition to condition summary #

Total conditions: 9
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 24 0 20 4 0 0 24
Sotos syndrome 0 7 0 11 2 0 0 13
Weaver syndrome 0 7 0 11 2 0 0 13
Sotos syndrome 1 0 15 0 2 7 0 0 9
not provided 0 18 0 2 5 0 0 7
History of neurodevelopmental disorder 0 19 0 5 1 0 0 6
Beckwith-Wiedemann syndrome 405 0 0 1 0 0 1 2
Dementia, Deafness, and Sensory Neuropathy 0 0 0 0 1 0 0 1
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies; Beckwith-Wiedemann syndrome due to CDKN1C mutation 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 50
Download table as spreadsheet
HGVS dbSNP
NM_000076.2(CDKN1C):c.-84G>A rs188494894
NM_000076.2(CDKN1C):c.353C>T (p.Pro118Leu) rs771731330
NM_000076.2(CDKN1C):c.444G>A (p.Pro148=) rs878853625
NM_000076.2(CDKN1C):c.528G>C (p.Ala176=) rs533485167
NM_000076.2(CDKN1C):c.549_554delCCCGGC (p.Ala193_Pro194del) rs878853629
NM_000076.2(CDKN1C):c.555T>C (p.Ala185=) rs191294997
NM_000076.2(CDKN1C):c.567_572delTCCGGC (p.Ala193_Pro194del) rs878853632
NM_000076.2(CDKN1C):c.600_605delAGCCCC (p.Ala215_Pro216del) rs1060503860
NM_000076.2(CDKN1C):c.600_611delAGCCCCGGCCCC (p.Ala213_Pro216del) rs878853634
NM_000076.2(CDKN1C):c.612G>A (p.Pro204=) rs794726872
NM_000076.2(CDKN1C):c.624_629delGGCCCC (p.Ala215_Pro216del) rs759134767
NM_000076.2(CDKN1C):c.624_629dupGGCCCC (p.Pro216_Asp217insAlaPro) rs759134767
NM_000076.2(CDKN1C):c.644_649dupCCCCGG (p.Pro216_Asp217insAlaPro) rs772704243
NM_000076.2(CDKN1C):c.669C>T (p.Ser223=) rs540923047
NM_000076.2(CDKN1C):c.702C>G (p.Gly234=) rs546016935
NM_000076.2(CDKN1C):c.708G>A (p.Glu236=) rs3741341
NM_000076.2(CDKN1C):c.845C>G (p.Ser282Ter) rs267606716
NM_001130823.2(DNMT1):c.406C>T (p.Arg136Cys) rs138841970
NM_022455.4(NSD1):c.1149C>T (p.Ile383=) rs34921128
NM_022455.4(NSD1):c.1495G>A (p.Ala499Thr) rs587784075
NM_022455.4(NSD1):c.1558G>A (p.Ala520Thr) rs559617787
NM_022455.4(NSD1):c.1690G>T (p.Ala564Ser) rs116520623
NM_022455.4(NSD1):c.1792T>C (p.Leu598=) rs28932176
NM_022455.4(NSD1):c.1980C>T (p.Asn660=) rs140072393
NM_022455.4(NSD1):c.2071G>A (p.Ala691Thr) rs28932177
NM_022455.4(NSD1):c.2169C>T (p.Thr723=) rs11948062
NM_022455.4(NSD1):c.2295C>T (p.Asn765=) rs146767413
NM_022455.4(NSD1):c.2339C>T (p.Ser780Leu) rs201327209
NM_022455.4(NSD1):c.2450C>T (p.Ser817Phe) rs115722008
NM_022455.4(NSD1):c.2835T>C (p.Ser945=) rs145987330
NM_022455.4(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179
NM_022455.4(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180
NM_022455.4(NSD1):c.339C>T (p.Cys113=) rs77093936
NM_022455.4(NSD1):c.3803G>A (p.Arg1268Gln) rs368706736
NM_022455.4(NSD1):c.4307A>G (p.Tyr1436Cys) rs574641900
NM_022455.4(NSD1):c.4473G>T (p.Ser1491=) rs150920473
NM_022455.4(NSD1):c.4605C>T (p.Arg1535=) rs140229717
NM_022455.4(NSD1):c.480C>T (p.Asp160=) rs79427433
NM_022455.4(NSD1):c.5303+1G>C rs587784141
NM_022455.4(NSD1):c.5304-1G>C rs863224905
NM_022455.4(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022455.4(NSD1):c.6001C>T (p.Leu2001=) rs587784172
NM_022455.4(NSD1):c.6259-8A>T rs370529039
NM_022455.4(NSD1):c.6444T>C (p.Asn2148=) rs146601031
NM_022455.4(NSD1):c.7350T>C (p.Asn2450=) rs200241618
NM_022455.4(NSD1):c.7597C>G (p.Leu2533Val) rs398124386
NM_022455.4(NSD1):c.760C>T (p.Leu254Phe) rs149334244
NM_022455.4(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455
NM_022455.4(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751
NM_022455.4(NSD1):c.7908C>T (p.Leu2636=) rs143159630

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