ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.678C>G (p.Ser226=)

dbSNP: rs1589663262
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000977755 SCV001125674 likely benign PTEN hamartoma tumor syndrome 2019-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001025646 SCV001187883 likely benign Hereditary cancer-predisposing syndrome 2019-11-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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