ClinVar Miner

Submissions for variant NM_000130.5(F5):c.4346C>T (p.Pro1449Leu)

gnomAD frequency: 0.00016  dbSNP: rs113768654
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003595807 SCV001678414 likely benign Congenital factor V deficiency 2024-01-29 criteria provided, single submitter clinical testing

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