ClinVar Miner

Submissions for variant 46;XY;t(1;4)(q21.3;p15.2)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 RCV000258750 SCV000320849 likely pathogenic Global developmental delay; Autistic behavior; Expressive language delay; Receptive language delay; Delayed speech and language development; Impaired social interactions; Limited shoulder movement 2016-08-20 criteria provided, single submitter research

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