ClinVar Miner

Variants in gene combination LOC130065680, SNTA1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
0 0 48 41 4 85

Condition and significance breakdown #

Total conditions: 8
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Condition uncertain significance likely benign benign total
Cardiovascular phenotype 20 32 0 52
Long QT syndrome 23 12 0 35
not provided 12 6 3 19
Long QT syndrome 12 13 1 2 16
Congenital long QT syndrome 8 2 0 10
not specified 2 4 1 7
Long QT syndrome 1 1 0 0 1
SNTA1-related disorder 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter uncertain significance likely benign benign total
Ambry Genetics 20 32 0 52
Labcorp Genetics (formerly Invitae), Labcorp 21 12 0 33
GeneDx 11 8 3 22
Illumina Laboratory Services, Illumina 12 3 2 15
Fulgent Genetics, Fulgent Genetics 6 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 1 4
Breakthrough Genomics, Breakthrough Genomics 1 3 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 0 2
Institute of Human Genetics, University of Goettingen 1 0 0 1
PreventionGenetics, part of Exact Sciences 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 1
Clinical Genetics, Academic Medical Center 0 0 1 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 1

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