ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.586C>T (p.Arg196Trp)

gnomAD frequency: 0.00001  dbSNP: rs770193876
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001918662 SCV002180913 benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2024-09-23 criteria provided, single submitter clinical testing

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