ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.79+35C>T (rs190707033)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PTEN Variant Curation Expert Panel RCV000710315 SCV000840499 benign PTEN hamartoma tumor syndrome 2016-09-14 reviewed by expert panel curation PTEN c.79+35C>T (IVS1+35C>T) meets criteria to be classified as benign for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (Mester et al. 2018; manuscript in preparation). Please see a summary of the rules and criteria codes in the 'PTEN ACMG Specifications Summary' document (assertion method column). BS1: Allele frequency of 0.00178 (1.78%, 492/277,200 alleles) in the gnomAD cohort. (PMID 27535533) BS3: Intronic variant with RNA, mini-gene, or other splicing assay demonstrating no splicing impact. (PMID 17636424)
Color RCV000209533 SCV000691188 likely benign Hereditary cancer-predisposing syndrome 2015-01-22 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine,University of Washington RCV000209533 SCV000265405 likely benign Hereditary cancer-predisposing syndrome 2015-12-01 no assertion criteria provided clinical testing

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