ClinVar Miner

Submissions for variant NM_019026.4(TMCO1):c.616C>T (p.Arg206Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735317 SCV000854471 pathogenic 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 criteria provided, single submitter clinical testing

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