ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.1023C>T (p.Asn341=)

gnomAD frequency: 0.00041  dbSNP: rs201900751
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732846 SCV000860838 benign not specified 2018-04-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535295 SCV001106127 likely benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2023-12-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424321 SCV004145232 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing PIK3R2: BP4, BP7

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