ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.294C>T (p.Ala98=)

gnomAD frequency: 0.00003  dbSNP: rs768919562
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550272 SCV000646212 likely benign Multiple endocrine neoplasia type 4 2024-01-19 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000550272 SCV000745552 likely benign Multiple endocrine neoplasia type 4 2017-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017630 SCV001178739 likely benign Hereditary cancer-predisposing syndrome 2017-10-09 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000550272 SCV000733141 likely benign Multiple endocrine neoplasia type 4 no assertion criteria provided clinical testing

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