ClinVar Miner

Variants from Laboratory of Inherited 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 Inherited Metabolic Diseases, Research centre for medical genetics: Collection method of the submission from Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics:
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
156 11 0 7 1 0 10 18

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 Inherited Metabolic Diseases, Research centre for medical genetics pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 6 3 0
likely pathogenic 1 0 6 0
uncertain significance 0 1 0 1

Submitter to submitter summary #

Total submitters: 9
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
Invitae 0 8 0 3 1 0 5 9
Counsyl 0 0 0 0 0 0 4 4
Natera, Inc. 0 0 0 0 1 0 0 1
Mendelics 0 0 0 1 0 0 0 1
Blueprint Genetics 0 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 0 0 0 1 1
Color Health, Inc 0 0 0 0 0 0 1 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_000187.4(HGD):c.1114G>A (p.Gly372Arg)
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del)
NM_000282.4(PCCA):c.1643+1_1643+2dup rs1555425626
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2119-9A>G rs1389933015
NM_000282.4(PCCA):c.717-2A>G
NM_000527.4(LDLR):c.1186+1G>T rs730880131
NM_000527.5(LDLR):c.940+3_940+6del
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.655-2A>G rs796052020
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341
NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro)
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_002693.2(POLG):c.2591A>T (p.Asn864Ile) rs121918050

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