ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.7619T>C (p.Val2540Ala)

gnomAD frequency: 0.00038  dbSNP: rs150778949
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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 RCV000986088 SCV001134921 uncertain significance not provided 2023-10-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503143 SCV002813338 uncertain significance von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand disease type 2 2021-10-15 criteria provided, single submitter clinical testing

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