ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.10C>T (p.Pro4Ser)

gnomAD frequency: 0.00080  dbSNP: rs142933317
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000878428 SCV001021331 benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2025-01-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001817052 SCV002065895 benign not specified 2018-08-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717725 SCV005314104 benign not provided criteria provided, single submitter not provided

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