ClinVar Miner

Submissions for variant NM_000132.4(F8):c.6067G>A (p.Glu2023Lys)

gnomAD frequency: 0.00004  dbSNP: rs781886601
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249950 SCV002519652 pathogenic Thrombophilia, X-linked, due to factor 8 defect 2022-05-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004793751 SCV005411523 uncertain significance not provided 2024-06-12 criteria provided, single submitter clinical testing PP3, PM1, PM2_moderate

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