ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.164+12T>C

gnomAD frequency: 0.00001  dbSNP: rs1057521654
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423185 SCV000523946 likely benign not specified 2016-02-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000776548 SCV000912154 likely benign Hereditary cancer-predisposing syndrome 2018-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062626 SCV002433527 likely benign PTEN hamartoma tumor syndrome 2024-12-31 criteria provided, single submitter clinical testing

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