ClinVar Miner

Variants from Broad Institute Rare Disease Group,Broad Institute with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Broad Institute Rare Disease Group,Broad Institute: Collection method of the submission from Broad Institute Rare Disease Group,Broad Institute:
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
88 32 6 22 0 0 8 36

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
Broad Institute Rare Disease Group,Broad Institute pathogenic likely pathogenic uncertain significance likely benign
pathogenic 5 11 1 0
likely pathogenic 6 1 3 0
uncertain significance 2 3 0 0
benign 0 0 0 5

Submitter to submitter summary #

Total submitters: 27
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
Counsyl 0 10 0 5 0 0 0 5
GeneReviews 0 6 5 0 0 0 0 5
OMIM 0 26 0 2 0 0 2 4
GeneDx 0 26 0 1 0 0 3 4
Illumina Clinical Services Laboratory,Illumina 0 6 0 4 0 0 0 4
Ambry Genetics 0 4 0 2 0 0 0 2
PreventionGenetics 0 1 0 1 0 0 1 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 15 0 2 0 0 0 2
NIHR Bioresource Rare Diseases,University of Cambridge 0 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 8 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 6 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 7 0 1 0 0 0 1
Invitae 0 21 0 0 0 0 1 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 2 0 1 0 0 0 1
Fulgent Genetics 0 12 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 0 1
GOLD service, Hunter New England Health 0 0 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 5 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 4 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 0 0 1 1
Gharavi Laboratory,Columbia University 0 3 0 1 0 0 0 1
Department of Pediatrics,Driscoll Children's Hospital 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP
NM_000070.2(CAPN3):c.1381C>T (p.Arg461Cys) rs1274808359
NM_000152.4(GAA):c.-32-13T>G rs386834236
NM_000243.2(MEFV):c.2082G>A (p.Met694Ile) rs28940578
NM_000257.3(MYH7):c.2080C>T (p.Arg694Cys) rs727504240
NM_000310.3(PPT1):c.363-4G>A rs117284255
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000382.2(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568
NM_000430.3(PAFAH1B1):c.1002+1G>A rs113994203
NM_000540.2(RYR1):c.15016G>A (p.Gly5006Ser)
NM_000540.2(RYR1):c.3301G>A (p.Val1101Met) rs145088074
NM_000554.4(CRX):c.365G>A (p.Gly122Asp) rs61748441
NM_001005463.2(EBF3):c.488G>A (p.Arg163Gln) rs1057519389
NM_001081550.1(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001134831.1(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001256850.1(TTN):c.53272C>T (p.Arg17758Ter) rs768073446
NM_002420.5(TRPM1):c.2629C>T (p.Arg877Ter)
NM_003611.2(OFD1):c.400_403delGAAA (p.Glu134Ilefs) rs312262830
NM_003632.2(CNTNAP1):c.1163G>C (p.Arg388Pro) rs779027563
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004387.3(NKX2-5):c.543G>A (p.Gln181=) rs72554028
NM_004646.3(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863
NM_005144.4(HR):c.3470C>G (p.Pro1157Arg) rs201030061
NM_006009.3(TUBA1A):c.1169G>C (p.Arg390Pro) rs1064796460
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
NM_014140.3(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_017882.2(CLN6):c.316dupC (p.Arg106Profs) rs397515352
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_024649.4(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_031885.3(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_033109.4(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153
NM_138422.3(ADAT3):c.430G>A (p.Val144Met) rs730882213
NM_138694.3(PKHD1):c.2279G>A (p.Arg760His) rs745770404
NM_153240.4(NPHP3):c.2694-2_2694-1delAG rs751527253
NM_206933.2(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.2(USH2A):c.1111_1112delAT (p.Ile371Phefs) rs1366496013
NM_213599.2(ANO5):c.191dupA rs137854521

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