ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.147C>T (p.Cys49=)

gnomAD frequency: 0.00001  dbSNP: rs747742623
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001455024 SCV001658764 likely benign Multiple endocrine neoplasia type 4 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002396059 SCV002701143 likely benign Hereditary cancer-predisposing syndrome 2020-09-16 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.

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