ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.802-3del (rs34003473)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196322 SCV000252697 benign PTEN hamartoma tumor syndrome 2015-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000214333 SCV000272934 likely benign Hereditary cancer-predisposing syndrome 2012-10-16 criteria provided, single submitter clinical testing
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, Partners HealthCare 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; dbSNP rs771859047).
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000507987 SCV000692020 benign not specified no assertion criteria provided clinical testing

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