Submissions for variant NM_000551.4(VHL):c.340+578C>T

gnomAD frequency: 0.00064  dbSNP: rs139622356

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001053915	SCV001218201	likely benign	Chuvash polycythemia; Von Hippel-Lindau syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002497415	SCV002808959	likely benign	Chuvash polycythemia; Pheochromocytoma; Von Hippel-Lindau syndrome; Nonpapillary renal cell carcinoma	2022-05-12	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV003316825	SCV004017821	likely benign	Von Hippel-Lindau syndrome	2023-04-10	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003320798	SCV004024878	uncertain significance	not specified	2024-07-31	criteria provided, single submitter	clinical testing
GenomeConnect - Invitae Patient Insights Network	RCV001053915	SCV001749824	not provided	Chuvash polycythemia; Von Hippel-Lindau syndrome		no assertion provided	phenotyping only	Variant interpreted as Likely benign and reported on 03-20-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.