ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.579G>A (p.Leu193=) (rs568851024)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000857596 SCV000166344 benign not provided 2019-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162705 SCV000213165 likely benign Hereditary cancer-predisposing syndrome 2014-09-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000123049 SCV000365739 likely benign PTEN hamartoma tumor syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000437368 SCV000514312 benign not specified 2015-06-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000437368 SCV000596621 likely benign not specified 2016-07-25 criteria provided, single submitter clinical testing
Color RCV000162705 SCV000686293 likely benign Hereditary cancer-predisposing syndrome 2015-04-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000437368 SCV000696536 benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Counsyl RCV000663101 SCV000786211 likely benign Cowden syndrome 1 2018-03-22 criteria provided, single submitter clinical testing

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