ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.765_766insTTC (p.Val255_Glu256insPhe)

dbSNP: rs2132277565
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002259560 SCV002538982 likely pathogenic PTEN hamartoma tumor syndrome 2022-06-30 criteria provided, single submitter clinical testing

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