ClinVar Miner

Submissions for variant 46;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)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 RCV000258629 SCV000320782 likely pathogenic Global developmental delay; Expressive language delay; Short stature; Enuresis; Feeding difficulties; Constipation; Receptive language delay; Tapered finger; Secundum atrial septal defect; Clinodactyly of the 5th finger; Specific learning disability; Facial asymmetry; Increased red blood cell mass; Poor suck; Delayed skeletal maturation; Proportionate shortening of all digits; Abnormality of facial skeleton; Tics; Attention deficit hyperactivity disorder 2016-08-20 criteria provided, single submitter research

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