ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.470A>G (p.Glu157Gly) (rs1085308051)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Herman Laboratory,Nationwide Children's Hospital RCV000490604 SCV000579277 pathogenic PTEN hamartoma tumor syndrome 2017-03-01 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000497161 SCV000588403 uncertain significance Macrocephaly/autism syndrome 2017-07-13 criteria provided, single submitter research

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