Submissions for variant NM_005027.4(PIK3R2):c.2127C>T (p.Thr709=)

gnomAD frequency: 0.04637  dbSNP: rs112813367

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000602127	SCV000745291	benign	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	2017-06-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001572977	SCV001913759	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000602127	SCV002469915	benign	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001572977	SCV005314123	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000602127	SCV000733867	benign	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572977	SCV001798175	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700242	SCV001917419	benign	not specified		no assertion criteria provided	clinical testing