ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.6A>C (p.Thr2=)

dbSNP: rs1168115184
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645097 SCV000766839 likely benign PTEN hamartoma tumor syndrome 2023-11-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271544 SCV002556260 likely benign not specified 2022-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360593 SCV002665294 likely benign Hereditary cancer-predisposing syndrome 2021-09-08 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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