ClinVar Miner

Submissions for variant NM_000133.4(F9):c.505T>C (p.Ser169Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466802 SCV002761480 likely pathogenic Hereditary factor IX deficiency disease 2021-10-20 criteria provided, single submitter clinical testing

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