ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.6532G>T (p.Ala2178Ser)

gnomAD frequency: 0.01330  dbSNP: rs34230288
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760135 SCV000889927 likely benign not provided 2023-03-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000760135 SCV002541188 uncertain significance not provided 2023-02-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000760135 SCV003799542 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000760135 SCV004132410 benign not provided 2024-06-01 criteria provided, single submitter clinical testing VWF: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000760135 SCV005213637 likely benign not provided criteria provided, single submitter not provided

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