Submissions for variant NM_000314.8(PTEN):c.802-3del

dbSNP: rs34003473

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000196322	SCV000252697	benign	PTEN hamartoma tumor syndrome	2015-08-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000214333	SCV000272934	benign	Hereditary cancer-predisposing syndrome	2020-07-07	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000507987	SCV000604974	benign	not specified	2016-11-19	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000507987	SCV000712182	benign	not specified	2016-05-23	criteria provided, single submitter	clinical testing	c.802-3delT in intron 7 of PTEN: This variant is not expected to have clinical s ignificance because it has been identified in 33.66% (3462/10286) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs771859047).
GeneDx	RCV001530049	SCV001781862	likely benign	not provided	2019-08-22	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798711	SCV002042724	benign	Breast and/or ovarian cancer	2021-04-21	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000214333	SCV002528264	benign	Hereditary cancer-predisposing syndrome	2019-12-09	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000507987	SCV002549971	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000507987	SCV000692020	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530049	SCV001744586	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001530049	SCV001799239	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000507987	SCV001809779	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000507987	SCV001905750	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000507987	SCV001917217	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000507987	SCV001932060	benign	not specified		no assertion criteria provided	clinical testing