ClinVar Miner

Variants from Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences: Collection method of the submission from Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences:
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 Variants with at least 2 submissions 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 kind of conflict
1 0 0 3 0 0 11 12

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
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences likely pathogenic uncertain significance likely benign benign
pathogenic 3 10 7 1

Submitter to submitter summary #

Total submitters: 22
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 9 10
GeneDx 0 2 0 0 0 0 10 10
Ambry Genetics 0 0 0 1 0 0 9 10
Invitae 0 1 0 1 0 0 9 10
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 0 0 0 0 6 6
CSER_CC_NCGL; University of Washington Medical Center 0 0 0 0 0 0 5 5
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 0 0 0 0 5 5
Color 0 0 0 0 0 0 4 4
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 0 0 2 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 0 0 0 0 2 2
OMIM 0 4 0 0 0 0 1 1
Athena Diagnostics Inc 0 0 0 0 0 0 1 1
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 0 0 1 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 0 0 1 1
Blueprint Genetics, 0 0 0 0 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 0 0 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114
NM_000335.4(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452
NM_000335.4(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233
NM_000432.3(MYL2):c.141C>A (p.Asn47Lys) rs199474808
NM_000432.3(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_001035.2(RYR2):c.3320C>T (p.Thr1107Met) rs200236750
NM_001037.4(SCN1B):c.457G>A (p.Asp153Asn) rs72550247
NM_001148.4(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706
NM_004415.2(DSP):c.88G>A (p.Val30Met) rs121912998
NM_015141.3(GPD1L):c.839C>T (p.Ala280Val) rs72552291
NM_018400.3(SCN3B):c.328G>A (p.Val110Ile) rs147205617
NM_198056.2(SCN5A):c.80G>A (p.Arg27His) rs199473045

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