ClinVar Miner

Variants studied for Torticollis; Global developmental delay; Short stature; Dysphagia; Premature birth; Generalized hypotonia; Joint hypermobility; Relative macrocephaly; Capillary hemangiomas; Congenital talipes calcaneovalgus

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
1 0 0 0 0 1

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic total
ARID1B 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic total
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 1

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