ClinVar Miner

Submissions for variant 46;XX;inv(7)(q11.23q36.3)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 RCV000258565 SCV000320829 pathogenic Poor coordination; Autistic behavior; Failure to thrive; Specific learning disability; Microcephaly; Hearing abnormality; Generalized hypotonia; Joint hypermobility; Pes cavus; Congenital finger flexion contractures; Mild global developmental delay; Oral motor hypotonia; Attention deficit hyperactivity disorder; Peripheral neuropathy 2016-08-20 criteria provided, single submitter research

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