ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.396C>T (p.Asp132=)

dbSNP: rs1592281203
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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 RCV000983251 SCV001131272 likely benign Multiple endocrine neoplasia type 4 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021552 SCV001183179 likely benign Hereditary cancer-predisposing syndrome 2019-05-09 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 RCV001021552 SCV002535489 likely benign Hereditary cancer-predisposing syndrome 2021-12-07 criteria provided, single submitter curation

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