ClinVar Miner

Variants studied for microcephaly, short stature, and impaired glucose metabolism 1

Included ClinVar conditions (1):
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
4 4 4 0 0 11

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
TRMT10A 4 4 4 11

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 2 0 0 2
Baylor Genetics 0 0 2 2
MGZ Medical Genetics Center 0 2 0 2
Centogene AG - the Rare Disease Company 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 0 1 0 1
3billion 1 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 1

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