ClinVar Miner

Submissions for variant NM_002578.5(PAK3):c.403C>T (p.Gln135Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Uniklinik RWTH Aachen RCV001260293 SCV001426660 likely pathogenic Mental retardation 30, X-linked 2020-08-06 criteria provided, single submitter clinical testing

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