ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.1012del (p.Ser338fs)

dbSNP: rs1564568660
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003453400 SCV004189532 pathogenic Cowden syndrome 1 2023-10-09 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV004568580 SCV005052552 pathogenic Glioma susceptibility 2 2024-03-16 criteria provided, single submitter clinical testing
Western Connecticut Health Network, Rudy L. Ruggles Biomedical Research Institute RCV000681620 SCV000808062 pathogenic Endometrial carcinoma no assertion criteria provided research

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