ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.267C>T (p.Tyr89=)

gnomAD frequency: 0.00001  dbSNP: rs532903617
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462344 SCV000554689 likely benign Multiple endocrine neoplasia type 4 2023-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429564 SCV002743926 likely benign Hereditary cancer-predisposing syndrome 2020-01-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV002510901 SCV002820825 uncertain significance not provided 2023-03-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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