ClinVar Miner

Variants studied for Ear malformation; Olivopontocerebellar degeneration; Global developmental delay; Motor delay; Autistic behavior; Hearing impairment; Tall stature; Clinodactyly of the 5th finger; Delayed speech and language development; Hypoplastic nipples; Abnormality of the retinal vasculature; Generalized neonatal hypotonia; Abnormal number of hair whorls; Delayed myelination; Abnormality of the tonsils; Attention deficit hyperactivity disorder; Abnormality of nasopharyngeal adenoids

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
0 0 1 0 0 1

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination uncertain significance total
​intergenic 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter uncertain significance total
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 1 1

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