ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.860C>G (p.Ser287Ter)

dbSNP: rs863224909
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000200784 SCV000255444 likely pathogenic Macrocephaly-autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1 2013-07-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763222 SCV000893849 pathogenic Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; VACTERL with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1 2018-10-31 criteria provided, single submitter clinical testing

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