ClinVar Miner

Variants studied for Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly

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
0 0 12 4 0 16

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination uncertain significance likely benign total
TRIO 10 4 14
LOC126807323, TRIO 2 0 2

Submitter and significance breakdown #

Total submitters: 6
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Submitter uncertain significance likely benign total
New York Genome Center 6 0 6
Fulgent Genetics, Fulgent Genetics 1 4 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1
Molecular Genetics Lab, CHRU Brest 1 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1

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