ClinVar Miner

Variants from Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino: Collection method of the submission from Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino:
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
9 9 0 1 11 1 7 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
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino pathogenic likely pathogenic uncertain significance likely benign benign risk factor
likely pathogenic 1 0 5 4 2 0
uncertain significance 0 1 0 9 7 1

Submitter to submitter summary #

Total submitters: 17
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
GeneDx 0 5 0 1 8 0 5 14
Athena Diagnostics Inc 0 3 0 0 6 0 3 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 6 0 1 5 0 3 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 8 0 0 2 0 6 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 3 0 0 4 0 3 7
Genetic Services Laboratory, University of Chicago 0 0 0 0 4 0 1 5
Ambry Genetics 0 3 0 0 5 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 0 4 0 0 4
PreventionGenetics, PreventionGenetics 0 0 0 0 3 0 1 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 3 0 1 4
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 0 0 3 0 0 3
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 3 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 1 0 1 2
Illumina Clinical Services Laboratory,Illumina 0 2 0 0 1 0 1 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 0 0 0 2 2
OMIM 0 0 0 0 0 1 0 1
GeneReviews 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_000051.4(ATM):c.146C>G rs1800054
NM_000051.4(ATM):c.8545C>T rs587778080
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) rs370137295
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770
NM_002693.2(POLG):c.2481-7C>T rs2307448
NM_004369.4(COL6A3):c.4156G>A rs146092501
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507
NM_020956.2(PRX):c.*1028C>A rs200033507
NM_020956.2(PRX):c.*3578G>A rs148939995
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.4(SH3TC2):c.3380G>A rs139192433
NM_030962.3(SBF2):c.2197C>G (p.Gln733Glu) rs145199888
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) rs141330687
NM_030962.3(SBF2):c.2476G>A (p.Val826Ile) rs1564917788

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