ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.79+7A>G (rs374331677)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute RCV000515928 SCV000579246 pathogenic Cowden syndrome 1 2017-05-26 no assertion criteria provided research
ClinGen PTEN Variant Curation Expert Panel RCV000123050 SCV000886856 uncertain significance PTEN hamartoma tumor syndrome 2018-07-25 reviewed by expert panel curation PTEN c.79+7A>G (IVS1+7A>G) 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). BS3: Intronic variant with RNA, mini-gene, or other splicing assay demonstrating no splicing impact. (PMID 28677221)
Color RCV000579577 SCV000686306 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-17 criteria provided, single submitter clinical testing
GeneDx RCV000115587 SCV000149496 likely benign not specified 2017-11-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000123050 SCV000166345 likely benign PTEN hamartoma tumor syndrome 2017-02-22 criteria provided, single submitter clinical testing

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