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

gnomAD frequency: 0.00338  dbSNP: rs73281150

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	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
Breakthrough Genomics, Breakthrough Genomics	RCV000515086	SCV005213776	likely benign	not provided		criteria provided, single submitter	not provided