ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PTEN Variant Curation Expert Panel RCV001172262 SCV001335269 benign PTEN hamartoma tumor syndrome 2020-03-23 reviewed by expert panel curation PTEN c.802-51_802-14del (IVS7-51_IVS7-14del) meets criteria to be classified as benign for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (PMID 30311380). Please see a summary of the rules and criteria codes in the "PTEN ACMG Specifications Summary" document (assertion method column). BA1: Allele frequency of 0.01931 (1.931%, 2747/142,290 alleles) in the global gnomAD cohort. (PMID 27535533)
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000508437 SCV000604980 benign not specified 2017-03-17 criteria provided, single submitter clinical testing
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.
Color RCV001178034 SCV001342362 benign Hereditary cancer-predisposing syndrome 2020-02-20 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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000508437 SCV000692019 likely benign not specified no assertion criteria provided clinical testing

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