ClinVar Miner

Submissions for variant NM_002578.5(PAK3):c.1282T>A (p.Trp428Arg) (rs1603378331)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genome Center,National Center of Neurology and Psychiatry RCV000824810 SCV000914231 likely pathogenic Mental retardation 30, X-linked 2018-12-10 criteria provided, single submitter research The most severe form of intellectual disability.

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