ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.6256+2dup

dbSNP: rs1565822983
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760133 SCV000889925 uncertain significance not provided 2018-06-12 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003225734 SCV003806817 uncertain significance von Willebrand disease type 1 2022-08-26 criteria provided, single submitter clinical testing ACMG classification criteria: PS4 supporting, PM2 moderated

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