ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.634+5G>C (rs138336847)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507258 SCV000604982 uncertain significance not specified 2017-03-21 criteria provided, single submitter clinical testing
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute RCV000515997 SCV000579238 pathogenic Cowden syndrome 1 2017-05-26 no assertion criteria provided research
ClinGen PTEN Variant Curation Expert Panel RCV000790888 SCV000930122 likely pathogenic PTEN hamartoma tumor syndrome 2019-06-25 reviewed by expert panel curation PTEN c.634+5G>C (IVS6+5G>C) meets criteria to be classified as likely pathogenic 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). PS3: RNA, mini-gene, or other assay shows impact on splicing. (PMID 28677221) PM2: Absent in large sequenced populations (PMID 27535533). PS4_P: Proband(s) with phenotype specificity score of 1-1.5. (PMID 28677221)

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