Submissions for variant NM_000551.4(VHL):c.213C>T (p.Pro71=)

gnomAD frequency: 0.00004  dbSNP: rs201663073

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000199646	SCV000253320	likely benign	Chuvash polycythemia; Von Hippel-Lindau syndrome	2025-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000574494	SCV000664619	benign	Hereditary cancer-predisposing syndrome	2016-02-15	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	RCV001550802	SCV001771192	likely benign	not provided	2020-11-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24727139)
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV005230068	SCV005873117	benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing	Classification criteria: BA1
PreventionGenetics, part of Exact Sciences	RCV003982942	SCV004797685	likely benign	VHL-related disorder	2022-01-21	no assertion criteria provided	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).