ClinVar Miner

Variants from NeuroMeGen,Hospital Clinico Santiago de Compostela with conflicting interpretations

Location: Spain — Primary collection method: clinical testing
Minimum review status of the submission from NeuroMeGen,Hospital Clinico Santiago de Compostela: Collection method of the submission from NeuroMeGen,Hospital Clinico Santiago de Compostela:
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
112 11 0 18 0 0 9 26

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
NeuroMeGen,Hospital Clinico Santiago de Compostela pathogenic uncertain significance likely benign benign
pathogenic 0 0 0 1
likely pathogenic 18 3 1 4

Submitter to submitter summary #

Total submitters: 22
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
Invitae 0 1 0 4 0 0 6 10
OMIM 0 1 0 8 0 0 0 8
GeneReviews 0 7 0 5 0 0 0 5
RettBASE 0 0 0 5 0 0 0 5
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 4 0 0 0 4
Center for Bioinformatics, Peking University 0 0 0 4 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 0 3 0 0 0 3
Mendelics 0 0 0 0 0 0 2 2
Baylor Genetics 0 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 0 0 0 0 1 1
Myriad Women's Health, Inc. 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001
NM_001101362.2(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr) rs121917915
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met) rs121917922
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828
NM_003165.4(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) rs41298474
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met) rs138393827
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp) rs1057519547
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_213599.2(ANO5):c.191dupA rs137854521
NM_213599.2(ANO5):c.692G>T (p.Gly231Val) rs137854523

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