ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.216T>C (p.Ala72=) (rs1057520862)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439858 SCV000518761 likely benign not specified 2015-09-10 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.
Invitae RCV000645095 SCV000766837 likely benign PTEN hamartoma tumor syndrome 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000775920 SCV000910408 likely benign Hereditary cancer-predisposing syndrome 2018-04-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000775920 SCV001175367 likely benign Hereditary cancer-predisposing syndrome 2015-12-10 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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