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
16 1 150 66 31 260

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 1 137 48 23 215
LOC110011216, PHOX2B 3 0 11 18 8 38
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: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 1 119 60 14 195
Illumina Clinical Services Laboratory,Illumina 0 0 29 8 23 60
OMIM 11 0 1 0 0 12
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

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