ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.1153G>A (p.Gly385Arg)

dbSNP: rs2043767578
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001289463 SCV001474046 pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2020-12-21 no assertion criteria provided clinical testing

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