ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.577C>T (p.Leu193Phe)

gnomAD frequency: 0.00338  dbSNP: rs73281150
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083519 SCV000554687 benign Multiple endocrine neoplasia type 4 2024-02-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515086 SCV000609665 likely benign not provided 2017-05-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568414 SCV000673202 benign Hereditary cancer-predisposing syndrome 2019-02-22 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV000515086 SCV001817975 likely benign not provided 2020-12-11 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268096 SCV002550002 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002268096 SCV002774212 benign not specified 2021-08-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001083519 SCV002799421 likely benign Multiple endocrine neoplasia type 4 2022-05-04 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001083519 SCV004017036 benign Multiple endocrine neoplasia type 4 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000515086 SCV004134457 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing CDKN1B: BP4, BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001083519 SCV004563320 likely benign Multiple endocrine neoplasia type 4 2023-03-24 criteria provided, single submitter clinical testing

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