ClinVar Miner

Variants from Molecular Genetics Laboratory,London Health Sciences Centre with conflicting interpretations

Location: Canada — Primary collection method: clinical testing
Minimum review status of the submission from Molecular Genetics Laboratory,London Health Sciences Centre: Collection method of the submission from Molecular Genetics Laboratory,London Health Sciences Centre:
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
1832 35 0 3 12 0 35 48

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 submitters
Molecular Genetics Laboratory,London Health Sciences Centre pathogenic likely pathogenic uncertain significance benign
pathogenic 0 1 17 0
likely pathogenic 2 0 13 0
uncertain significance 1 2 0 1
likely benign 1 1 7 0
benign 0 0 4 0

Submitter to submitter summary #

Total submitters: 5
Download table as spreadsheet
Submitter 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
Inherited Neuropathy Consortium 0 17 0 1 9 0 28 38
Genesis Genome Database 0 7 0 0 2 0 4 6
GeneReviews 0 5 0 1 0 0 2 3
Dept. of Medical Genetics, Telemark Hospital Trust 0 3 0 1 0 0 2 3
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 48
Download table as spreadsheet
HGVS dbSNP
NM_000166.6(GJB1):c.381C>G (p.Ile127Met) rs1602349264
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.462T>C (p.Tyr154=) rs879254098
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_000166.6(GJB1):c.8G>C (p.Trp3Ser) rs1555936989
NM_000304.4(PMP22):c.179-2A>G rs1597608225
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) rs1597597627
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.296T>C (p.Ile99Thr) rs1571819182
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) rs1571818632
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) rs141862602
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) rs587781250
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_014874.3(MFN2):c.1827C>T (p.Ser609=) rs138724074
NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr) rs144860227
NM_014874.3(MFN2):c.751C>G (p.Pro251Ala) rs28940295
NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg) rs373698346
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_020956.2(PRX):c.*1779T>C rs149715830
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.3(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_030973.3(MED25):c.1004C>T (p.Ala335Val) rs145770066
NM_138361.5(LRSAM1):c.1913-1G>A rs756880678
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_181882.3(PRX):c.3198del (p.Phe1066fs) rs1599651549
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del) rs139624657

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