ClinVar Miner

Submissions for variant 46;X;inv(X)(q26q28)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 RCV000258557 SCV000320767 uncertain significance Large congenital melanocytic nevus; Obesity; Atypical behavior; Scoliosis; Abnormal facial shape; Hyperpigmentation of the skin; Neonatal hypotonia; Hypoplastic toenails; Short toe; Long foot; Poor suck; Increased intracranial pressure; Accelerated skeletal maturation 2016-08-20 criteria provided, single submitter research

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