ClinVar Miner

Submissions for variant NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) (rs398124211)

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Total submissions: 4
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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 RCV000735292 SCV000854445 uncertain significance Pectus excavatum; Acute myeloid leukemia; Short stature; Cognitive impairment; Webbed neck; Pancytopenia; Abnormality of the tongue criteria provided, single submitter clinical testing
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735316 SCV000854470 uncertain significance 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081321 SCV000113241 uncertain significance not provided 2013-01-21 no assertion criteria provided clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000790946 SCV000930200 uncertain significance Mental retardation with panhypopituitarism, X-linked 2019-04-27 criteria provided, single submitter clinical testing

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