ClinVar Miner

Variants from Faculty of Health Sciences, Beirut Arab University with conflicting interpretations

Location: Lebanon  Primary collection method: literature only
Minimum review status of the submission from Faculty of Health Sciences, Beirut Arab University: Collection method of the submission from Faculty of Health Sciences, Beirut Arab University:
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
56 39 0 36 0 0 13 45

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
Faculty of Health Sciences, Beirut Arab University likely pathogenic uncertain significance likely benign benign
pathogenic 36 10 4 1

Submitter to submitter summary #

Total submitters: 18
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
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 0 25 0 0 0 25
Invitae 0 47 0 3 0 0 6 9
CeGaT Center for Human Genetics Tuebingen 0 16 0 3 0 0 4 7
Eurofins Ntd Llc (ga) 0 2 0 0 0 0 6 6
GeneDx 0 12 0 2 0 0 3 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 2 0 3 0 0 1 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 3 0 2 0 0 1 3
Revvity Omics, Revvity 0 5 0 1 0 0 1 2
Clinical Genetics, Academic Medical Center 0 3 0 1 0 0 1 2
Illumina Laboratory Services, Illumina 0 3 0 1 0 0 1 2
OMIM 0 1 0 0 0 0 1 1
PreventionGenetics, part of Exact Sciences 0 5 0 0 0 0 1 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 9 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227 0.21425
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354 0.00124
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_145290.4(ADGRA3):c.2504C>G (p.Ser835Cys) rs562486549 0.00005
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00003
NM_015047.3(EMC1):c.430G>A (p.Ala144Thr) rs869320623 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) rs770045008 0.00002
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816 0.00002
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) rs768278935 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys) rs771833874 0.00001
NM_006017.3(PROM1):c.2130+2del rs768303070 0.00001
NM_014014.5(SNRNP200):c.6308A>G (p.Asn2103Ser) rs780795928 0.00001
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882 0.00001
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) rs763295314 0.00001
NM_206933.4(USH2A):c.14294T>C (p.Val4765Ala) rs763127023 0.00001
NM_000283.4(PDE6B):c.1010A>G (p.His337Arg) rs1736178477
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) rs786205626
NM_000329.3(RPE65):c.1366del (p.Glu456fs) rs786205444
NM_000350.3(ABCA4):c.1630_1633dup (p.Asn545fs) rs793888523
NM_000350.3(ABCA4):c.2815G>T (p.Glu939Ter) rs786205447
NM_000350.3(ABCA4):c.5391_5392del (p.Cys1797_Ala1798insTer) rs786205445
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000554.6(CRX):c.274G>A (p.Ala92Thr) rs786205521
NM_000554.6(CRX):c.695del (p.Pro232fs) rs786205630
NM_001142800.2(EYS):c.179del (p.Leu60fs) rs786205652
NM_004744.5(LRAT):c.233_242del (p.Leu78fs) rs786205644
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) rs750542962
NM_006343.3(MERTK):c.1604+2T>G rs786205534
NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter) rs786205535
NM_006343.3(MERTK):c.325A>T (p.Lys109Ter) rs786205533
NM_006915.3(RP2):c.2T>C (p.Met1Thr) rs797044561
NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser) rs786205529
NM_014249.4(NR2E3):c.951del (p.Thr318fs) rs11351249
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) rs786205564
NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg) rs786205450
NM_201253.3(CRB1):c.2330_2336del (p.Pro777fs) rs786205610
NM_201548.5(CERKL):c.812T>C (p.Ile271Thr) rs786205545

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.