ClinVar Miner

Submissions for variant NM_007325.5(GRIA3):c.1964T>C (p.Phe655Ser)

dbSNP: rs1135401788
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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 RCV000496189 SCV000586741 pathogenic Syndromic X-linked intellectual disability 94 2017-01-06 criteria provided, single submitter clinical testing Intellectual disability, severe; hypotonia

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