ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.254-30dup (rs77494260)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PTEN Variant Curation Expert Panel RCV001078169 SCV001244241 benign PTEN hamartoma tumor syndrome 2019-11-22 reviewed by expert panel curation PTEN c.254-30dup (IVS4-30dup) 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 0.01437 (1.437%, 3748/260,738 alleles) in the gnomAD cohort. (PMID 27535533)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078610 SCV000110466 benign not specified 2015-03-27 criteria provided, single submitter clinical testing
Color RCV000580015 SCV000686284 benign Hereditary cancer-predisposing syndrome 2014-12-09 criteria provided, single submitter clinical testing
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute RCV000515841 SCV000579251 uncertain significance Cowden syndrome 1 2017-05-26 no assertion criteria provided research
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000078610 SCV000692006 benign not specified no assertion criteria provided clinical testing

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