Submissions for variant NM_000551.4(VHL):c.192C>T (p.Arg64=)

gnomAD frequency: 0.00001  dbSNP: rs1012545817

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000435127	SCV000522957	likely benign	not specified	2016-01-05	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	RCV000472487	SCV000563222	likely benign	Chuvash polycythemia; Von Hippel-Lindau syndrome	2024-01-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001013745	SCV001174368	likely benign	Hereditary cancer-predisposing syndrome	2019-03-19	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	RCV001013745	SCV002534149	likely benign	Hereditary cancer-predisposing syndrome	2021-07-09	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV003430989	SCV004146916	likely benign	not provided	2022-06-01	criteria provided, single submitter	clinical testing	VHL: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV004000383	SCV004819801	likely benign	Von Hippel-Lindau syndrome	2024-02-05	criteria provided, single submitter	clinical testing