ClinVar Miner

Submissions for variant 46;XY;t(1;3)(p32.1;p25)

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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 RCV000258626 SCV000320988 uncertain significance Global developmental delay; Motor delay; Autistic behavior; Seizures; Absent speech; Delayed speech and language development; Epileptic spasms 2016-08-20 criteria provided, single submitter research

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