ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.396T>C (p.Gly132=)

dbSNP: rs1564830257
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001416664 SCV001618847 likely benign PTEN hamartoma tumor syndrome 2021-02-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000935715 SCV002048270 likely benign not provided 2020-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002320126 SCV002626342 likely benign Hereditary cancer-predisposing syndrome 2021-12-01 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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