Submissions for variant NM_000314.8(PTEN):c.-511G>A

dbSNP: rs12573787

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001692338	SCV001156740	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001701281	SCV002549943	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology	RCV002284209	SCV002573656	likely pathogenic	Myeloproliferative neoplasm, unclassifiable	2022-08-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002549131	SCV003454280	benign	PTEN hamartoma tumor syndrome	2023-11-27	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV001701281	SCV004233943	benign	not specified	2024-01-24	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 41% of patients studied by a panel of primary immunodeficiencies. Number of patients: 36. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001692338	SCV005319846	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV001692338	SCV001906294	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701281	SCV001924358	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004545004	SCV004798836	benign	PTEN-related disorder	2020-03-19	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).