ClinVar Miner

Submissions for variant NM_000130.5(F5):c.4218C>T (p.Leu1406=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003763599 SCV004508065 likely benign Congenital factor V deficiency 2024-01-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004585057 SCV005075401 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing F5: BP4, BP7

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