ClinVar Miner

Submissions for variant NM_000130.5(F5):c.2846del (p.Leu949fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005051141 SCV005684344 likely pathogenic Ischemic stroke; Thrombophilia due to activated protein C resistance; Budd-Chiari syndrome; Pregnancy loss, recurrent, susceptibility to, 1; Congenital factor V deficiency 2024-03-12 criteria provided, single submitter clinical testing

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