ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.802-51_802-14del (rs557364463)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508437 SCV000604980 benign not specified 2017-03-17 criteria provided, single submitter clinical testing
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute RCV000516066 SCV000579256 uncertain significance Cowden syndrome 1 2017-05-26 no assertion criteria provided research
GeneDx RCV000508437 SCV000729411 benign not specified 2018-02-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000508437 SCV000692019 likely benign not specified no assertion criteria provided clinical testing

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