ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.764T>A (p.Val255Glu) (rs1564566998)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health: University of Minnesota RCV000761336 SCV000891322 likely pathogenic PTEN-related disorder 2018-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001026665 SCV001189094 likely pathogenic Hereditary cancer-predisposing syndrome 2019-11-12 criteria provided, single submitter clinical testing Deficient protein function in appropriate functional assay(s);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Rarity in general population databases (dbsnp, esp, 1000 genomes);Structural Evidence

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