Submissions for variant NM_000551.4(VHL):c.135G>A (p.Pro45=)

gnomAD frequency: 0.00007  dbSNP: rs773519476

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000524492	SCV000253319	likely benign	Chuvash polycythemia; Von Hippel-Lindau syndrome	2024-01-07	criteria provided, single submitter	clinical testing
Counsyl	RCV000198105	SCV000489527	likely benign	Von Hippel-Lindau syndrome	2016-10-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000564375	SCV000675790	likely benign	Hereditary cancer-predisposing syndrome	2017-07-26	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	RCV001651064	SCV001867928	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000564375	SCV002534141	likely benign	Hereditary cancer-predisposing syndrome	2021-05-20	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003927851	SCV004742529	likely benign	VHL-related disorder	2019-09-16	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health	RCV000198105	SCV004841634	likely benign	Von Hippel-Lindau syndrome	2023-08-28	criteria provided, single submitter	clinical testing