ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.801+23G>A (rs116160352)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PTEN Variant Curation Expert Panel RCV000710311 SCV000840490 likely benign PTEN hamartoma tumor syndrome 2018-09-26 reviewed by expert panel curation PTEN c.801+23G>A (IVS7+23G>A) meets criteria to be classified as likely 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 0.0024 (0.24%, 58/24,016 alleles) in the African subpopulation of the gnomAD cohort. (PMID 27535533) BP4: Intronic variant where at least 2 out of 3 in silico models predict no splicing impact.
Counsyl RCV000412418 SCV000488272 likely benign Cowden syndrome 1 2016-02-10 criteria provided, single submitter clinical testing

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