ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.1044A>G (p.Thr348=)

dbSNP: rs747606399
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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 RCV001402972 SCV001604832 likely benign PTEN hamartoma tumor syndrome 2024-11-09 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002259114 SCV002528213 likely benign Hereditary cancer-predisposing syndrome 2020-11-11 criteria provided, single submitter curation
Color Diagnostics, LLC DBA Color Health RCV002259114 SCV004357073 likely benign Hereditary cancer-predisposing syndrome 2021-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002259114 SCV005034350 likely benign Hereditary cancer-predisposing syndrome 2024-02-16 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.

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