ClinVar Miner

Variants in gene AP2S1

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
3 1 38 79 14 127

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 3 0 30 70 13 113
Familial hypocalciuric hypercalcemia 3 3 0 8 5 1 17
not specified 0 0 2 10 2 14
AP2S1-related disorder 3 1 0 3 0 7
Inborn genetic diseases 0 0 3 0 0 3
Neurodevelopmental disorder 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 3 0 19 56 4 82
GeneDx 3 0 11 13 10 37
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 2 10 1 14
Breakthrough Genomics, Breakthrough Genomics 0 0 0 9 5 14
Fulgent Genetics, Fulgent Genetics 1 0 7 5 0 13
PreventionGenetics, part of Exact Sciences 3 1 0 3 1 8
CeGaT Center for Human Genetics Tuebingen 1 0 1 2 0 4
OMIM 3 0 0 0 0 3
Ambry Genetics 0 0 3 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 2
Molecular Genetics Laboratory, Biobizkaia Health Research Institute 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 1 0 0 0 0 1

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