ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.528C>T (p.Asp176=)

gnomAD frequency: 0.00003  dbSNP: rs779413893
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878844 SCV001021822 likely benign Multiple endocrine neoplasia type 4 2024-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346044 SCV002642066 likely benign Hereditary cancer-predisposing syndrome 2020-03-09 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478568 SCV004220765 likely benign not provided 2022-09-29 criteria provided, single submitter clinical testing

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