ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.55dup (p.Asp19fs)

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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. RCV003452545 SCV004189699 pathogenic Cowden syndrome 1 2023-09-25 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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