ClinVar Miner

Submissions for variant NM_000132.4(F8):c.144-13T>G

gnomAD frequency: 0.00001  dbSNP: rs782248521
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001802268 SCV002050045 likely benign Hereditary factor VIII deficiency disease 2021-10-08 criteria provided, single submitter clinical testing

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