ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.764T>G (p.Val255Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797022 SCV005417313 likely pathogenic Macrocephaly-autism syndrome; Familial meningioma; Glioma susceptibility 2; Familial prostate cancer; Cowden syndrome 1 criteria provided, single submitter clinical testing PM2_Supporting+PP3_Strong+PP2+PM6_Supporting

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