ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.1596C>T (p.Gly532=)

gnomAD frequency: 0.00251  dbSNP: rs111240043
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000308809 SCV000380641 uncertain significance Hereditary von Willebrand disease 2016-06-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000986059 SCV001134884 uncertain significance not provided 2018-09-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000986059 SCV004132423 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing VWF: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004549678 SCV004736163 benign VWF-related disorder 2019-05-02 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).

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