ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.254-26A>T

dbSNP: rs757177445
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988416 SCV001138129 benign PTEN hamartoma tumor syndrome 2019-05-28 criteria provided, single submitter clinical testing
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV003330095 SCV004037182 uncertain significance Macrocephaly-autism syndrome criteria provided, single submitter not provided

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