ClinVar Miner

Submissions for variant NM_000314.6(PTEN):c.-1027C>A

dbSNP: rs587781128
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162383 SCV000212696 benign Hereditary cancer-predisposing syndrome 2014-10-22 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV000241658 SCV000303564 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000380108 SCV000365715 likely benign PTEN hamartoma tumor syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000241658 SCV000596617 benign not specified 2019-01-09 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000241658 SCV000691987 likely benign not specified no assertion criteria provided clinical testing

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