ClinVar Miner

Variants from Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City with conflicting interpretations

Location: Saudi Arabia — Primary collection method: clinical testing
Minimum review status of the submission from Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City: Collection method of the submission from Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City:
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
72 12 2 14 3 2 12 25

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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City pathogenic likely pathogenic uncertain significance likely benign benign protective other
pathogenic 2 12 7 0 0 1 2
likely pathogenic 2 0 1 0 0 0 0
uncertain significance 1 2 0 1 1 0 0
likely benign 0 1 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 17
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
GeneDx 0 14 0 4 0 0 2 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 8 0 1 0 0 4 5
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 4 0 0 1 5
Ambry Genetics 0 4 0 2 0 0 2 4
OMIM 0 13 0 1 0 2 0 3
Invitae 0 5 0 0 2 0 0 2
GeneReviews 0 3 2 0 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 4 0 0 1 0 1 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 0 0 0 0 1 1
Institute for Human Genetics,University Clinic Freiburg 0 0 0 0 0 0 1 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 0 0 1 0 0 0 1
Counsyl 0 4 0 0 1 0 0 1
Fulgent Genetics 0 3 0 0 0 0 1 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_000158.3(GBE1):c.998A>T (p.Glu333Val) rs1553684545
NM_000282.3(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_001267550.1(TTN):c.32471-1G>A rs371725574
NM_001287489.1(OTOF):c.5375G>A (p.Arg1792His) rs111033349
NM_001849.3(COL6A2):c.511G>A (p.Gly171Arg) rs200710788
NM_002427.3(MMP13):c.619T>G (p.Trp207Gly) rs140059558
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_004092.3(ECHS1):c.88+5G>A rs761464256
NM_005993.4(TBCD):c.1661C>T (p.Ala554Val) rs1555641324
NM_015185.2(ARHGEF9):c.311G>A (p.Arg104Gln) rs1556401714
NM_015340.3(LARS2):c.457A>C (p.Asn153His) rs786205560
NM_017890.4(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_018849.2(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_019108.3(SMG9):c.701+4A>G rs869312742
NM_020451.2(SELENON):c.550G>C (p.Ala184Pro) rs199742668
NM_152268.3(PARS2):c.283G>A (p.Val95Ile) rs147227819
NM_173483.3(CYP4F22):c.712G>A (p.Ala238Thr)
NM_177400.2(NKX6-2):c.196delC (p.Arg66Glyfs) rs1554961118
NM_182760.3(SUMF1):c.785A>G (p.Gln262Arg) rs1064793391
NM_183075.2(CYP2U1):c.947A>T (p.Asp316Val) rs397514513

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