ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.-666G>A

gnomAD frequency: 0.00069  dbSNP: rs553371022
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711454 SCV000149472 likely benign not provided 2017-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764923 SCV000896086 uncertain significance 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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