Submissions for variant NM_000552.5(VWF):c.7997C>T (p.Thr2666Met)

gnomAD frequency: 0.02215  dbSNP: rs78353028

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224741	SCV000281368	likely benign	not provided	2015-08-25	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina	RCV000323842	SCV000380550	likely benign	Hereditary von Willebrand disease	2016-06-14	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000224741	SCV000888711	benign	not provided	2023-03-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243901	SCV002514526	benign	von Willebrand disease type 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243902	SCV002514527	benign	von Willebrand disease type 3	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002243903	SCV002514528	benign	von Willebrand disease type 2	2021-12-05	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000224741	SCV003800327	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000224741	SCV005213629	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004547572	SCV004794297	benign	VWF-related disorder	2019-03-19	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).