ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.1626G>A (p.Ala542=)

gnomAD frequency: 0.06825  dbSNP: rs35365059
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246194 SCV000305285 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398036 SCV000380640 likely benign Hereditary von Willebrand disease 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812680 SCV000884877 benign not provided 2021-01-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243955 SCV002514682 benign von Willebrand disease type 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243956 SCV002514683 benign von Willebrand disease type 3 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243957 SCV002514684 benign von Willebrand disease type 2 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001812680 SCV005213675 likely benign not provided criteria provided, single submitter not provided

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