ClinVar Miner

Variants studied for Autism, susceptibility to, X-linked 4

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
5 8 23 3 0 39

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
PTCHD1 5 8 23 1 37
FRMPD4 0 0 0 2 2

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
3billion 0 1 1 1 3
OMIM 3 0 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 3 0 3
Baylor Genetics 0 0 2 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 2
MVZ Martinsried, Medicover Genetics 0 0 2 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 1 0 1
Eurofins-Biomnis 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 1
Lifecell International Pvt. Ltd 0 1 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 1
Medgenome Labs Pvt Ltd 0 0 1 0 1
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 1 0 0 0 1
Mendelics 0 0 1 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 1

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