ClinVar Miner

Submissions for variant 46;XY;t(7;15)(q21;q26)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 RCV000258544 SCV000320804 likely pathogenic Global developmental delay; Expressive language delay; Short stature; Failure to thrive; Upslanted palpebral fissure; Feeding difficulties; Abnormal facial shape; Delayed speech and language development; Single transverse palmar crease; Thin upper lip vermilion; Long eyelashes; Hypoplastic toenails; Clinodactyly of the 5th toe; Decreased body weight; Persistent open anterior fontanelle; Relative macrocephaly; Prominent forehead 2016-08-20 criteria provided, single submitter research

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