ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.225G>C (p.Glu75Asp)

gnomAD frequency: 0.00006  dbSNP: rs139727620
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574426 SCV000673212 benign Hereditary cancer-predisposing syndrome 2022-12-08 criteria provided, single submitter clinical testing This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000645529 SCV000767275 likely benign Multiple endocrine neoplasia type 4 2024-01-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV000645529 SCV004212428 uncertain significance Multiple endocrine neoplasia type 4 2022-07-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478281 SCV004220749 benign not provided 2023-07-12 criteria provided, single submitter clinical testing

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