ClinVar Miner

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

Coded as:
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 risk factor total
2 7 18 3 0 3 33

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 risk factor total
PTCHD1 2 7 18 1 3 31
FRMPD4 0 0 0 2 0 2

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign risk factor total
OMIM 0 0 0 0 3 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 3 0 0 3
Baylor Genetics 0 0 2 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 0 2 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 2
3billion, Medical Genetics 0 1 0 1 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Mendelics 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 1 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 1
Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
Eurofins-Biomnis 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1

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