Submissions for variant NM_000551.4(VHL):c.48G>A (p.Glu16=)

gnomAD frequency: 0.00001  dbSNP: rs1057522140

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000436728	SCV000526343	likely benign	not specified	2016-03-28	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000468815	SCV000563227	likely benign	Chuvash polycythemia; Von Hippel-Lindau syndrome	2023-11-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001023231	SCV001185076	likely benign	Hereditary cancer-predisposing syndrome	2019-04-30	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	RCV001023231	SCV002534181	likely benign	Hereditary cancer-predisposing syndrome	2021-08-23	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV004000423	SCV004841631	likely benign	Von Hippel-Lindau syndrome	2023-11-20	criteria provided, single submitter	clinical testing