ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.1217G>A (p.Arg406His)

gnomAD frequency: 0.00008  dbSNP: rs201531496
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238383 SCV002009742 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001768436 SCV003249027 benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2024-11-30 criteria provided, single submitter clinical testing

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