ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.585T>C (p.Phe195=)

dbSNP: rs1554900624
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000532309 SCV000645601 likely benign PTEN hamartoma tumor syndrome 2022-08-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000584148 SCV000691176 likely benign Hereditary cancer-predisposing syndrome 2016-02-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584148 SCV001186656 likely benign Hereditary cancer-predisposing syndrome 2019-08-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
All of Us Research Program, National Institutes of Health RCV000532309 SCV004838566 likely benign PTEN hamartoma tumor syndrome 2024-04-16 criteria provided, single submitter clinical testing

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