ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.676del (p.Ser226fs)

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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. RCV003452589 SCV004189768 pathogenic Cowden syndrome 1 2023-09-29 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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