ClinVar Miner

Submissions for variant 46;XY;t(8;10)(q13;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 RCV000258522 SCV000320797 pathogenic Hypertelorism; Global developmental delay; Autistic behavior; Micrognathia; Short phalanx of finger; Growth delay; Low-set ears; 2-3 toe syndactyly; Absent speech; Single transverse palmar crease; Short toe; Somatic sensory dysfunction; Bilateral conductive hearing impairment; Attention deficit hyperactivity disorder 2016-08-20 criteria provided, single submitter research

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