ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.802-5_802-3del

dbSNP: rs34003473
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219547 SCV000272938 likely benign Hereditary cancer-predisposing syndrome 2022-10-27 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.
Mendelics RCV000988423 SCV001138139 benign PTEN hamartoma tumor syndrome 2019-05-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003491964 SCV004239984 uncertain significance Breast and/or ovarian cancer 2023-01-18 criteria provided, single submitter clinical testing

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