ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.271_279del (p.Glu91_His93del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003452483 SCV004188799 likely pathogenic Cowden syndrome 1 2023-09-26 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 17324556, 20685300]. This variant is expected to disrupt protein structure [Myriad internal data].

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