ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.802-13T>C

gnomAD frequency: 0.00002  dbSNP: rs540097879
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001192348 SCV001360392 likely benign Hereditary cancer-predisposing syndrome 2020-12-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150410 SCV003838446 likely benign Breast and/or ovarian cancer 2022-03-02 criteria provided, single submitter clinical testing

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