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
63 30 0 31 0 0 12 41

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 31 9 3 1

Submitter to submitter summary #

Total submitters: 13
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
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 25 0 0 0 25
Invitae 0 24 0 2 0 0 5 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 2 0 0 0 0 6 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 14 0 2 0 0 4 6
GeneDx 0 6 0 2 0 0 1 3
Illumina Clinical Services Laboratory,Illumina 0 2 0 1 0 0 1 2
OMIM 0 1 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 0 0 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
Sharon lab,Hadassah-Hebrew University Medical Center 0 1 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 6 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP
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.1140T>A (p.Asn380Lys) rs61748549
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.3482G>A (p.Arg1161His) rs768278935
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.425A>G (p.Tyr142Cys) rs61748442
NM_000554.6(CRX):c.695del (p.Pro232fs) rs786205630
NM_001142800.2(EYS):c.179del (p.Leu60fs) rs786205652
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val) rs868349465
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798
NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys)
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) rs770045008
NM_004744.5(LRAT):c.233_242del (p.Leu78fs) rs786205644
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) rs750542962
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227
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_014014.5(SNRNP200):c.6308A>G (p.Asn2103Ser)
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873
NM_014249.4(NR2E3):c.951del (p.Thr318fs) rs11351249
NM_015047.3(EMC1):c.430G>A (p.Ala144Thr) rs869320623
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) rs786205564
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) rs763295314
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816
NM_145290.4(ADGRA3):c.2504C>G (p.Ser835Cys)
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354
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
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902

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