ClinVar Miner

Variants studied for Malan overgrowth syndrome

Included ClinVar conditions (2):
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
19 9 9 10 2 49

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 benign total
NFIX 18 9 9 10 2 48
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 11 1 8 10 2 32
OMIM 3 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 1
McKusick-Nathans Institute of Genetic Medicine,Johns Hopkins University 1 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1

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