ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.148A>G (p.Met50Val)

dbSNP: rs2136535487
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001801310 SCV002047519 uncertain significance von Willebrand disease type 2 2021-06-28 criteria provided, single submitter clinical testing

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