ClinVar Miner

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

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Total submissions: 8
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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 RCV001668370 SCV000729411 benign not provided 2018-03-28 criteria provided, single submitter clinical testing
Color Health, Inc RCV001178034 SCV001342362 benign Hereditary cancer-predisposing syndrome 2020-02-20 criteria provided, single submitter clinical testing
Invitae RCV001172262 SCV001724760 benign PTEN hamartoma tumor syndrome 2020-11-30 criteria provided, single submitter clinical testing
GeneDx RCV001668370 SCV001883777 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11986403)
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 Laboratories, Mayo Clinic RCV000508437 SCV000692019 likely benign not specified no assertion criteria provided clinical testing

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