Submissions for variant NM_016169.4(SUFU):c.600C>T (p.Ile200=)

gnomAD frequency: 0.00116  dbSNP: rs149513330

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081771	SCV000557085	benign	Gorlin syndrome; Medulloblastoma	2024-01-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000732323	SCV000605322	likely benign	not provided	2023-10-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000568542	SCV000675268	likely benign	Hereditary cancer-predisposing syndrome	2019-03-07	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.
GeneDx	RCV000507081	SCV000729794	likely benign	not specified	2017-07-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000732323	SCV000860263	uncertain significance	not provided	2018-04-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000732323	SCV001246702	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	SUFU: BP4, BP7
Illumina Laboratory Services, Illumina	RCV001108833	SCV001266116	likely benign	Medulloblastoma	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000732323	SCV002047127	benign	not provided	2021-05-27	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000507081	SCV002065939	likely benign	not specified	2021-06-22	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000568542	SCV002527203	likely benign	Hereditary cancer-predisposing syndrome	2021-05-06	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316587	SCV004015583	benign	Familial meningioma	2023-07-07	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000732323	SCV001808490	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000732323	SCV001954685	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000732323	SCV001967117	likely benign	not provided		no assertion criteria provided	clinical testing