ClinVar Miner

Submissions for variant NM_002578.5(PAK3):c.1255C>T (p.Arg419Ter) (rs121434611)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012324 SCV000032558 pathogenic Mental retardation 30, X-linked 1998-09-01 no assertion criteria provided literature only
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000656321 SCV000778296 pathogenic not provided 2018-01-03 no assertion criteria provided clinical testing

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