ClinVar Miner

Variants studied for Autistic disorder of childhood onset; Cryptorchidism; Pulmonic stenosis; Sensorineural hearing loss; Global developmental delay; Scoliosis; Hemivertebrae; Bilateral cleft lip and palate; Rib fusion; Abnormality of the sternum; Bilateral cleft palate; Delayed speech and language development; Renal agenesis; Unilateral renal agenesis; Strabismus; Severe visual impairment; Relative macrocephaly; Bilateral cleft lip; Cleft palate

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 1 0 0 2

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic uncertain significance total
SOX3 0 1 1
TMCO1 1 0 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic uncertain significance total
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 1 2

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