ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.102C>T (p.Gly34=)

dbSNP: rs2136355548
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002153697 SCV002470500 likely benign Multiple endocrine neoplasia type 4 2023-03-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255732 SCV002535466 likely benign Hereditary cancer-predisposing syndrome 2020-08-26 criteria provided, single submitter curation
Ambry Genetics RCV002255732 SCV003859188 likely benign Hereditary cancer-predisposing syndrome 2023-02-18 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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