ClinVar Miner

Variants studied for Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

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
5 3 3 0 0 11

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
AMMECR1 4 3 2 9
AMMECR1, CRIPTO3, GNG5B, LOC130068552, LOC130068553, LOC130068554, LOC130068555, LOC130068556, LOC130068557, LOC130068558, RTL9 1 0 0 1
AMMECR1, TMEM164 0 0 1 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance total
Genetics Division, Universidade Federal de Sao Paulo 3 1 0 4
OMIM 3 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 0 2 2
Baylor Genetics 0 1 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 1 0 0 1

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