ClinVar Miner

Variants from Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, with conflicting interpretations

Location: Iran, Islamic Republic of — Primary collection method: clinical testing
Minimum review status of the submission from Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,: Collection method of the submission from Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,:
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
79 11 0 0 0 0 29 29

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
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, pathogenic likely pathogenic
uncertain significance 14 18

Submitter to submitter summary #

Total submitters: 15
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
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 5 0 0 0 0 17 17
Counsyl 0 4 0 0 0 0 4 4
Invitae 0 4 0 0 0 0 4 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 4 4
OMIM 0 0 0 0 0 0 2 2
Institute of Human Genetics, Klinikum rechts der Isar 0 0 0 0 0 0 2 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 0 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 0 0 0 0 0 1 1
Natera, Inc. 0 0 0 0 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 0 0 1 1
Laboratory of Metabolic Disorders,Peking University First Hospital 0 0 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 0 0 0 1 1
Biologia e Medicina Molecolare, Sapienza University of Rome 0 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 0 0 0 1 1
Amsterdam Leukodystrophy Center,Amsterdam UMC 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg)
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala)
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)
NM_000049.3(ASPA):c.432G>A (p.Lys144=) rs754087904
NM_000049.4(ASPA):c.437_449del (p.Ser146fs)
NM_000049.4(ASPA):c.634+1G>T rs753871454
NM_000147.4(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000147.5(FUCA1):c.82del (p.Val28fs)
NM_000153.4(GALC):c.830G>A (p.Ser277Asn)
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000487.6(ARSA):c.1200C>T (p.Phe400=)
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738
NM_000521.4(HEXB):c.652ATT[1] (p.Ile219del)
NM_001376472.1(MLC1):c.449_455del rs1057517090
NM_003172.4(SURF1):c.532A>T (p.Asn178Tyr) rs587753385
NM_003730.6(RNASET2):c.233C>A (p.Ser78Ter)
NM_005198.4(CHKB):c.1129C>T (p.Arg377Trp) rs766848672
NM_015166.4(MLC1):c.183C>A (p.Cys61Ter)
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_018082.6(POLR3B):c.2099A>C (p.Asn700Thr)
NM_020435.4(GJC2):c.118G>C (p.Ala40Pro)
NM_020435.4(GJC2):c.733T>A (p.Cys245Ser)
NM_020435.4(GJC2):c.883C>T (p.Gln295Ter)
NM_024407.5(NDUFS7):c.415G>A (p.Asp139Asn) rs1171276645
NM_024678.6(NARS2):c.500A>G (p.His167Arg) rs750594551
NM_024884.3(L2HGDH):c.408+1G>C
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) rs1554131502

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