ClinVar Miner

Submissions for variant 46;XY;inv(2)(q11.2q24.2)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 RCV000258513 SCV000320886 uncertain significance Ear malformation; Olivopontocerebellar degeneration; Global developmental delay; Motor delay; Autistic behavior; Hearing impairment; Tall stature; Clinodactyly of the 5th finger; Delayed speech and language development; Hypoplastic nipples; Abnormality of the retinal vasculature; Generalized neonatal hypotonia; Abnormal number of hair whorls; Delayed myelination; Abnormality of the tonsils; Attention deficit hyperactivity disorder; Abnormality of nasopharyngeal adenoids 2016-08-20 criteria provided, single submitter research

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