Submissions for variant NM_000552.5(VWF):c.114C>T (p.Phe38=)

gnomAD frequency: 0.00241  dbSNP: rs2229443

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000377882	SCV000380657	uncertain significance	Hereditary von Willebrand disease	2016-06-14	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000504545	SCV000597930	likely benign	not specified	2016-12-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000994825	SCV001148609	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	VWF: BP4, BP7, BS2
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000994825	SCV002046476	likely benign	not provided	2023-02-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000994825	SCV004564963	likely benign	not provided	2024-05-14	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000994825	SCV001952637	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000994825	SCV001966737	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004549679	SCV004794501	likely benign	VWF-related disorder	2019-12-06	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).