ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.557T>C (p.Leu186Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005041942 SCV005678976 uncertain significance Macrocephaly-autism syndrome; Familial meningioma; Glioma susceptibility 2; Familial prostate cancer; Cowden syndrome 1 2024-02-06 criteria provided, single submitter clinical testing

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