ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.126C>T (p.Thr42=)

gnomAD frequency: 0.00001  dbSNP: rs747582957
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549455 SCV000646192 likely benign Multiple endocrine neoplasia type 4 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565024 SCV000673216 likely benign Hereditary cancer-predisposing syndrome 2017-06-13 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.
Sema4, Sema4 RCV000565024 SCV002535470 likely benign Hereditary cancer-predisposing syndrome 2021-06-30 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478159 SCV004220742 likely benign not provided 2023-07-28 criteria provided, single submitter clinical testing

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