Variant: VWF NM_000552.5: c.7682T>A p.(Phe2561Tyr)

Suggested GOF mechanism

Located in exon 45 of VWF (C4 domain)

Present in gnomAD, suggested as likely benign/benign Found in exome and genome samples (Allele count is 69570, allele freq = 4.32e-2, homozygote count= 1725)

Note that the assessment here is primarily in white individuals