ClinVar Miner

Variants from Laboratory of Experimental Gene Therapy of Hereditary Metabolic Diseases, Research Centre for Medical Genetics with conflicting interpretations

Location: Russian Federation  Primary collection method: clinical testing
Minimum review status of the submission from Laboratory of Experimental Gene Therapy of Hereditary Metabolic Diseases, Research Centre for Medical Genetics: Collection method of the submission from Laboratory of Experimental Gene Therapy of Hereditary Metabolic Diseases, Research Centre for Medical Genetics:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
27 9 0 21 1 0 9 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
Laboratory of Experimental Gene Therapy of Hereditary Metabolic Diseases, Research Centre for Medical Genetics pathogenic likely pathogenic uncertain significance benign
pathogenic 0 16 3 0
likely pathogenic 5 0 5 0
uncertain significance 0 1 0 1

Submitter to submitter summary #

Total submitters: 12
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
Counsyl 0 1 0 12 0 0 2 14
Labcorp Genetics (formerly Invitae), Labcorp 0 22 0 7 1 0 3 11
Natera, Inc. 0 21 0 3 1 0 1 5
Fulgent Genetics, Fulgent Genetics 0 11 0 3 0 0 0 3
Revvity Omics, Revvity 0 6 0 3 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 1 0 0 1 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 2 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 0 0 1 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 0 0 0 0 1 1
Myriad Genetics, Inc. 0 5 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 18 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu) rs201251634 0.00251
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00003
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser) rs148092995 0.00002
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479 0.00001
NM_000487.6(ARSA):c.244C>T (p.Arg82Trp) rs1313802305 0.00001
NM_000487.6(ARSA):c.565G>A (p.Val189Met) rs774085931 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000487.6(ARSA):c.901C>T (p.Arg301Trp) rs794727704 0.00001
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00001
NM_000487.6(ARSA):c.1107+1G>A rs2146718906
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1136C>T (p.Pro379Leu) rs74315478
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr) rs199476376
NM_000487.6(ARSA):c.200C>T (p.Pro67Leu) rs765558965
NM_000487.6(ARSA):c.217C>T (p.Pro73Ser) rs2518336089
NM_000487.6(ARSA):c.224+1G>A rs1555901108
NM_000487.6(ARSA):c.362G>A (p.Gly121Glu) rs2518333963
NM_000487.6(ARSA):c.412C>T (p.Pro138Ser) rs60504011
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000487.6(ARSA):c.424G>A (p.Gly142Ser) rs2146725322
NM_000487.6(ARSA):c.465G>C (p.Gln155His) rs199476377
NM_000487.6(ARSA):c.466-2A>G rs1057517044
NM_000487.6(ARSA):c.607T>C (p.Tyr203His) rs2082680103
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000487.6(ARSA):c.960G>T (p.Trp320Cys)
NM_000487.6(ARSA):c.980-2A>C rs769152137

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