ClinVar Miner

Submissions for variant 46;XX;inv(18)(q11.2q23)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 RCV000258748 SCV000320803 likely pathogenic Congenital vertical talus; Mild global developmental delay; Hypotonia 2016-08-20 criteria provided, single submitter research

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