ClinVar Miner

Variants studied for Congenital central hypoventilation

Coded as:
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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
18 1 134 66 31 245

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PHOX2B 8 1 122 48 23 199
LOC110011216, PHOX2B 5 0 10 18 8 39
ASCL1, PAH 1 0 1 0 0 2
ASCL1 1 0 0 0 0 1
BDNF 0 0 1 0 0 1
EDN3 1 0 0 0 0 1
GDNF 1 0 0 0 0 1
RET 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 1 103 60 14 179
Illumina Clinical Services Laboratory,Illumina 0 0 29 8 23 60
OMIM 12 0 1 0 0 13
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 2
Mendelics 1 0 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1

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