ClinVar Miner

Variants studied for arhinia, choanal atresia, and microphthalmia

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
20 0 9 2 13 43

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic uncertain significance likely benign benign total
SMCHD1 20 9 2 12 42
LOC130062084, SMCHD1 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic uncertain significance likely benign benign total
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital 20 0 0 0 20
Genome-Nilou Lab 0 0 0 13 13
OMIM 9 0 0 0 9
Fulgent Genetics, Fulgent Genetics 0 2 2 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 2
Baylor Genetics 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 1

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