ClinVar Miner

Variants from Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences with conflicting interpretations

Location: Iran, Islamic Republic of  Primary collection method: research
Minimum review status of the submission from Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences: Collection method of the submission from Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences:
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
13 5 0 1 1 0 18 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
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 0 6 0
likely pathogenic 1 0 11 0
uncertain significance 0 1 0 1

Submitter to submitter summary #

Total submitters: 5
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
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 5 0 0 0 0 17 17
Invitae 0 1 0 1 1 0 3 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 1 0 0 1
Genome-Nilou Lab 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00001
NM_024407.5(NDUFS7):c.415G>A (p.Asp139Asn) rs1171276645 0.00001
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg) rs1557054776
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala) rs1603236086
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro) rs781904944
NM_000049.4(ASPA):c.437_449del (p.Ser146fs) rs2073669074
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000147.5(FUCA1):c.82del (p.Val28fs) rs1639666186
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter) rs1884501856
NM_000153.4(GALC):c.830G>A (p.Ser277Asn) rs1886145312
NM_000521.4(HEXB):c.652ATT[1] (p.Ile219del) rs1749130533
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_003730.6(RNASET2):c.233C>A (p.Ser78Ter) rs1434250650
NM_015166.4(MLC1):c.183C>A (p.Cys61Ter) rs1436214826
NM_018082.6(POLR3B):c.2099A>C (p.Asn700Thr) rs2037839447
NM_020435.4(GJC2):c.118G>C (p.Ala40Pro) rs1302747902
NM_020435.4(GJC2):c.733T>A (p.Cys245Ser) rs1571908056
NM_020435.4(GJC2):c.883C>T (p.Gln295Ter) rs1375875748
NM_024884.3(L2HGDH):c.408+1G>C rs2030438427

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