ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.51C>T (p.Asp17=)

dbSNP: rs552533838
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001498065 SCV001702806 likely benign Multiple endocrine neoplasia type 4 2021-10-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258051 SCV002527683 likely benign Hereditary cancer-predisposing syndrome 2021-08-16 criteria provided, single submitter curation
Ambry Genetics RCV002258051 SCV002644406 likely benign Hereditary cancer-predisposing syndrome 2021-07-26 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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