ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.1191C>T (p.Ser397=)

gnomAD frequency: 0.00013  dbSNP: rs201146203
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001412615 SCV001614706 likely benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2020-08-14 criteria provided, single submitter clinical testing
GeneDx RCV000904324 SCV001916420 benign not provided 2021-06-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000904324 SCV004145233 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing PIK3R2: BP4, BP7

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