ClinVar Miner

Submissions for variant NM_000130.5(F5):c.3939C>T (p.Ser1313=)

gnomAD frequency: 0.00001  dbSNP: rs1445744008
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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 RCV005092806 SCV001075028 likely benign Congenital factor V deficiency 2024-06-12 criteria provided, single submitter clinical testing

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