ClinVar Miner

Variants studied for Microcephaly, short stature, and polymicrogyria with or without seizures

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 total
6 0 15 0 1 22

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance benign total
RTTN 6 15 1 22

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic uncertain significance benign total
Baylor Genetics 0 11 0 11
OMIM 5 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 2
Service de Génétique Moléculaire,Hôpital Robert Debré 1 0 0 1
Research Group Niklas Dahl,Uppsala University 1 0 0 1
Kasturba Medical College, Manipal University 0 1 0 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 1 0 0 1
New York Genome Center 0 1 0 1
Nilou-Genome Lab 0 0 1 1

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