ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.738G>A (p.Pro246=) (rs774364894)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196249 SCV000253241 likely benign PTEN hamartoma tumor syndrome 2017-09-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000214148 SCV000273807 likely benign Hereditary cancer-predisposing syndrome 2015-02-17 criteria provided, single submitter clinical testing
Counsyl RCV000411682 SCV000488778 likely benign Cowden syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000614031 SCV000713982 likely benign not specified 2018-02-22 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.

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