ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.1062G>A (p.Pro354=)

gnomAD frequency: 0.00001  dbSNP: rs786202751
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165723 SCV000216464 likely benign Hereditary cancer-predisposing syndrome 2014-08-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001079814 SCV000554541 likely benign PTEN hamartoma tumor syndrome 2024-11-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165723 SCV001354513 likely benign Hereditary cancer-predisposing syndrome 2017-01-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000467139 SCV001470627 likely benign not provided 2020-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000467139 SCV001770791 likely benign not provided 2019-09-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818384 SCV002066763 uncertain significance not specified 2021-01-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001079814 SCV004838601 likely benign PTEN hamartoma tumor syndrome 2023-06-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000467139 SCV005878361 likely benign not provided 2024-07-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001818384 SCV005884793 likely benign not specified 2024-12-06 criteria provided, single submitter clinical testing

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