ClinVar Miner

Submissions for variant NM_139279.6(MCFD2):c.47T>C (p.Leu16Pro)

dbSNP: rs1572611822
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000985001 SCV004805483 likely pathogenic Factor 5 and Factor VIII, combined deficiency of, 2 2024-03-25 criteria provided, single submitter research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985001 SCV001132930 uncertain significance Factor 5 and Factor VIII, combined deficiency of, 2 2019-08-25 no assertion criteria provided clinical testing

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