ClinVar Miner

Submissions for variant NM_002578.5(PAK3):c.1270G>A (p.Gly424Arg)

dbSNP: rs1569459580
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris RCV000768415 SCV000897773 likely pathogenic Intellectual disability 2019-04-12 no assertion criteria provided clinical testing

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