ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.525A>G (p.Ser175=)

dbSNP: rs755410592
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001501945 SCV001706767 likely benign Multiple endocrine neoplasia type 4 2023-12-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002476804 SCV002774524 uncertain significance not provided 2021-07-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161011 SCV003872415 likely benign Hereditary cancer-predisposing syndrome 2022-12-04 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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