ClinVar Miner

Submissions for variant NM_000132.4(F8):c.6454T>C (p.Ser2152Pro)

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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 RCV003484565 SCV004229122 likely pathogenic Hereditary factor VIII deficiency disease 2022-10-14 criteria provided, single submitter clinical testing

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