ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.18A>G (p.Lys6=) (rs876660391)

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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 RCV000710310 SCV000840488 likely benign PTEN hamartoma tumor syndrome 2016-10-12 reviewed by expert panel curation PTEN c.18A>G (p.L6=) 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). BP4: Synonymous variant where at least 2 out of 3 in silico models predict no splicing impact. BP7: Variant is synonymous (silent), nucleotide is not conserved, and no splicing impact is predicted.
Ambry Genetics RCV000218095 SCV000277784 likely benign Hereditary cancer-predisposing syndrome 2015-08-15 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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