ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.4850_4867del (p.Lys1617_Asp1622del)

dbSNP: rs2136411706
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Hematology, Radboud University Medical Center RCV002264868 SCV002546332 likely pathogenic von Willebrand disease type 1 2022-01-21 criteria provided, single submitter research

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