ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.29G>A (p.Arg10His)

dbSNP: rs1371555508
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335228 SCV001528328 uncertain significance Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2018-09-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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