ClinVar Miner

Submissions for variant 46;XX;t(6;21)(q14;q21)dn

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital RCV000258552 SCV000320973 likely pathogenic Global developmental delay; Autistic behavior; Axial hypotonia; Clinodactyly of the 5th finger; Delayed speech and language development; Strabismus; Abnormal aggressive, impulsive or violent behavior; Severe global developmental delay 2016-08-20 criteria provided, single submitter research

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