ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.114C>T (p.His38=)

gnomAD frequency: 0.00031  dbSNP: rs141178987
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467290 SCV000554684 benign Multiple endocrine neoplasia type 4 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017483 SCV001178568 likely benign Hereditary cancer-predisposing syndrome 2017-10-12 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 RCV001017483 SCV002535468 benign Hereditary cancer-predisposing syndrome 2021-03-15 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003932721 SCV004753508 likely benign CDKN1B-related disorder 2024-01-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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