ClinVar Miner

Variants from Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer with conflicting interpretations

Location: Israel — Primary collection method: research
Minimum review status of the submission from Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer: Collection method of the submission from Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer:
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
16 0 0 9 2 0 10 19

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
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 6 0 1 0 0
uncertain significance 4 5 0 0 1
benign 0 0 1 2 0

Submitter to submitter summary #

Total submitters: 7
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
OMIM 0 0 0 4 0 0 4 8
GeneDx 0 1 0 3 1 0 3 7
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 1 0 3 4
Counsyl 0 0 0 1 1 0 0 2
Invitae 0 1 0 1 1 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_000536.3(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.3(RAG2):c.1158C>A (p.Phe386Leu) rs34629171
NM_000536.3(RAG2):c.115A>G (p.Arg39Gly) rs121917897
NM_000536.3(RAG2):c.123C>G (p.Cys41Trp) rs121917895
NM_000536.3(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000536.3(RAG2):c.1309G>A (p.Glu437Lys) rs193922573
NM_000536.3(RAG2):c.1352G>C (p.Gly451Ala) rs121918575
NM_000536.3(RAG2):c.1433G>A (p.Cys478Tyr) rs121918573
NM_000536.3(RAG2):c.1504A>G (p.Met502Val) rs145614809
NM_000536.3(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000536.3(RAG2):c.218G>A (p.Arg73His) rs762407838
NM_000536.3(RAG2):c.230C>A (p.Thr77Asn) rs121918574
NM_000536.3(RAG2):c.2T>C (p.Met1Thr) rs1554947410
NM_000536.3(RAG2):c.328A>C (p.Met110Leu) rs193922575
NM_000536.3(RAG2):c.479C>T (p.Ser160Leu) rs756694972
NM_000536.3(RAG2):c.539C>A (p.Pro180His) rs1064793251
NM_000536.3(RAG2):c.644C>T (p.Thr215Ile) rs35691292
NM_000536.3(RAG2):c.686G>A (p.Arg229Gln) rs121917894
NM_000536.3(RAG2):c.854T>G (p.Met285Arg) rs121917896

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