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
74 12 0 8 1 0 33 42

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 benign
pathogenic 0 1 0 0
likely pathogenic 7 0 1 0
uncertain significance 16 20 0 1

Submitter to submitter summary #

Total submitters: 27
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
Invitae 0 8 0 6 0 0 6 12
OMIM 0 0 0 2 0 0 3 5
Baylor Genetics 0 0 0 3 0 0 2 5
Natera, Inc. 0 1 0 1 0 0 4 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 5 5
Counsyl 0 3 0 1 0 0 3 4
Fulgent Genetics, Fulgent Genetics 0 2 0 3 0 0 0 3
Myriad Genetics, Inc. 0 0 0 0 0 0 3 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 2 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 0 0 0 0 0 2 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 0 1 0 0 1 2
Genome-Nilou Lab 0 2 0 0 0 0 2 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 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
Revvity Omics, Revvity 0 0 0 0 0 0 1 1
MGZ Medical Genetics Center 0 0 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 0 0 0 0 0 1 1
Mendelics 0 0 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 0 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
DASA 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.868C>T (p.Arg290Cys) rs780750448 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_015166.4(MLC1):c.449_455del (p.Leu150fs) rs1057517090 0.00003
NM_000049.4(ASPA):c.432G>A (p.Lys144=) rs754087904 0.00001
NM_000049.4(ASPA):c.634+1G>T rs753871454 0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687 0.00001
NM_004035.7(ACOX1):c.679G>A (p.Gly227Ser) rs1002618350 0.00001
NM_024407.5(NDUFS7):c.415G>A (p.Asp139Asn) rs1171276645 0.00001
NM_024678.6(NARS2):c.500A>G (p.His167Arg) rs750594551 0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 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.215G>A (p.Trp72Ter) rs1639662981
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_000159.4(GCDH):c.1228G>A (p.Val410Met) rs760155287
NM_000310.4(PPT1):c.362+5G>A rs796052924
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000487.6(ARSA):c.1200C>T (p.Phe400=) rs1175674325
NM_000487.6(ARSA):c.607T>C (p.Tyr203His) rs2082680103
NM_000487.6(ARSA):c.979+1G>A rs754722529
NM_000520.6(HEXA):c.568_569del (p.Leu190fs) rs2088721832
NM_000521.4(HEXB):c.652ATT[1] (p.Ile219del) rs1749130533
NM_001042646.3(TRAK1):c.1963+101GGA[12] rs10634555
NM_001371596.2(MFSD8):c.616C>T (p.Gln206Ter) rs1209722075
NM_003172.4(SURF1):c.532A>T (p.Asn178Tyr) rs587753385
NM_003730.6(RNASET2):c.233C>A (p.Ser78Ter) rs1434250650
NM_005198.5(CHKB):c.1129C>T (p.Arg377Trp) rs766848672
NM_015166.4(MLC1):c.183C>A (p.Cys61Ter) rs1436214826
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer) rs267607236
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
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
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) rs1554131502

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