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 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
1 0 0 2 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 2 9 9 1

Submitter to submitter summary #

Total submitters: 22
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
Ambry Genetics 0 0 0 1 0 0 10 11
GeneDx 0 1 0 0 0 0 10 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 0 0 8 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 1 0 0 6 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 0 0 4 4
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 0 0 0 0 4 4
Color Diagnostics, LLC DBA Color Health 0 0 0 0 0 0 4 4
CeGaT Center for Human Genetics Tuebingen 0 1 0 0 0 0 4 4
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 0 0 0 3 3
PreventionGenetics, part of Exact Sciences 0 1 0 0 0 0 3 3
Revvity Omics, Revvity 0 0 0 0 0 0 2 2
Clinical Genetics, Academic Medical Center 0 1 0 0 0 0 2 2
Invitae 0 0 0 0 0 0 2 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 0 0 2 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 0 2 2
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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 0 0 1 1
Eurofins Ntd Llc (ga) 0 0 0 0 0 0 1 1
Blueprint Genetics 0 1 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 0 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706 0.00094
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233 0.00040
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) rs147205617 0.00029
NM_000335.5(SCN5A):c.80G>A (p.Arg27His) rs199473045 0.00017
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247 0.00009
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368

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