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 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
95 11 0 30 0 0 16 43

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 likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 2 0 0
likely pathogenic 27 0 11 4 3

Submitter to submitter summary #

Total submitters: 33
Download table as spreadsheet
Submitter 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
Invitae 0 7 0 9 0 0 12 21
GeneDx 0 8 0 16 0 0 3 19
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 0 8 0 0 4 12
OMIM 0 1 0 11 0 0 0 11
Genetic Services Laboratory, University of Chicago 0 0 0 6 0 0 2 8
Athena Diagnostics Inc 0 3 0 3 0 0 2 5
Ambry Genetics 0 0 0 4 0 0 1 5
GeneReviews 0 8 0 5 0 0 0 5
Fulgent Genetics 0 1 0 4 0 0 1 5
RettBASE 0 0 0 5 0 0 0 5
Illumina Clinical Services Laboratory,Illumina 0 0 0 3 0 0 1 4
Center for Bioinformatics, Peking University 0 0 0 4 0 0 0 4
Baylor Miraca Genetics Laboratories, 0 0 0 1 0 0 1 2
PreventionGenetics 0 0 0 0 0 0 2 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 0 1 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 0 1
Counsyl 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
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 1 0 0 0 1
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 1 0 0 0 1
Division of Medical Genetics; Sainte-Justine Hospital 0 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 43
Download table as spreadsheet
HGVS dbSNP
NM_000070.2(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491
NM_000166.5(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000426.3(LAMA2):c.149C>T (p.Ala50Val)
NM_000540.2(RYR1):c.13672C>T (p.Arg4558Trp) rs771741606
NM_000540.2(RYR1):c.7027G>A (p.Gly2343Ser) rs536596969
NM_000833.4(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001069.2(TUBB2A):c.743C>T (p.Ala248Val) rs2808001
NM_001101362.2(KBTBD13):c.244G>A (p.Val82Met) rs1303411209
NM_001101362.2(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093
NM_001160036.1(RHOBTB2):c.1531C>T (p.Arg511Trp) rs1554504681
NM_001165963.1(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760
NM_001199107.1(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965
NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys) rs137964147
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828
NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_003159.2(CDKL5):c.163_166delGAAA (p.Glu55Argfs) rs267608433
NM_003159.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_003159.2(CDKL5):c.2635_2636delCT (p.Leu879Glufs) rs61753251
NM_003165.3(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_003494.3(DYSF):c.5629T>C (p.Tyr1877His) rs762258343
NM_004980.4(KCND3):c.1111G>A (p.Gly371Arg) rs1057521793
NM_004992.3(MECP2):c.917G>A (p.Arg306His) rs61751443
NM_005027.3(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005249.4(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_006920.5(SCN1A):c.4789G>T (p.Asp1597Tyr) rs121917915
NM_006920.5(SCN1A):c.4940C>T (p.Thr1647Met) rs121917922
NM_006920.5(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_017534.5(MYH2):c.4774C>A (p.Leu1592Met) rs138393827
NM_021007.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_021007.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_021072.3(HCN1):c.1172G>A (p.Gly391Asp) rs1057519547
NM_021942.5(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_133499.2(SYN1):c.1297C>T (p.His433Tyr) rs41298474
NM_145239.2(PRRT2):c.649dupC (p.Arg217Profs) rs587778771
NM_172107.3(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.3(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.3(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_213599.2(ANO5):c.1767C>A (p.Tyr589Ter) rs188150039
NM_213599.2(ANO5):c.191dupA rs137854521
NM_213599.2(ANO5):c.692G>T (p.Gly231Val) rs137854523
TSEN54:c.[277T>C;919G>T]

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