Submissions for variant NM_000551.4(VHL):c.315G>C (p.Thr105=)

gnomAD frequency: 0.00002  dbSNP: rs769102979

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000433860	SCV000529858	likely benign	not specified	2017-04-11	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.
Invitae	RCV000458236	SCV000563218	likely benign	Chuvash polycythemia; Von Hippel-Lindau syndrome	2023-12-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001018869	SCV001180158	likely benign	Hereditary cancer-predisposing syndrome	2015-03-06	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	RCV001018869	SCV002534159	likely benign	Hereditary cancer-predisposing syndrome	2021-01-16	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000433860	SCV002552400	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004000479	SCV004841642	likely benign	Von Hippel-Lindau syndrome	2024-01-11	criteria provided, single submitter	clinical testing