ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.75G>A (p.Leu25=) (rs786201506)

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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 RCV000553143 SCV000840466 uncertain significance PTEN hamartoma tumor syndrome 2019-06-25 reviewed by expert panel curation PTEN c.75G>A (p.Leu25=) 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). BP7: Variant is synonymous (silent), nucleotide is not conserved, and no splicing impact is predicted.
Ambry Genetics RCV000163772 SCV000214353 likely benign Hereditary cancer-predisposing syndrome 2014-10-08 criteria provided, single submitter clinical testing
Invitae RCV000553143 SCV000645620 likely benign PTEN hamartoma tumor syndrome 2017-02-27 criteria provided, single submitter clinical testing
Color RCV000163772 SCV000686302 likely benign Hereditary cancer-predisposing syndrome 2015-08-11 criteria provided, single submitter clinical testing

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