ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.*10del (rs756681683)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PTEN Variant Curation Expert Panel RCV000735266 SCV000863479 uncertain significance PTEN hamartoma tumor syndrome 2018-04-06 reviewed by expert panel curation PTEN c.*10delT (NC_000010.10:g.89725239delT) is currently classified as a variant of uncertain significance 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). PM2: Absent in large sequenced populations (PMID 27535533).
GeneDx RCV000169817 SCV000222136 benign Hereditary cancer-predisposing syndrome 2014-02-24 criteria provided, single submitter clinical testing The variant is found in PTEN panel(s).
Counsyl RCV000411453 SCV000488168 uncertain significance Cowden syndrome 1 2016-01-13 criteria provided, single submitter clinical testing
Color RCV000169817 SCV000686267 likely benign Hereditary cancer-predisposing syndrome 2016-11-17 criteria provided, single submitter clinical testing

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