ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.821A>C (p.Glu274Ala)

dbSNP: rs2043752967
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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, University of Leipzig Medical Center RCV001253652 SCV001429487 uncertain significance Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2018-02-07 criteria provided, single submitter clinical testing

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