ClinVar Miner

Submissions for variant NM_000130.5(F5):c.6554A>G (p.Lys2185Arg)

gnomAD frequency: 0.00271  dbSNP: rs6679078
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003596646 SCV001032269 likely benign Congenital factor V deficiency 2024-12-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487944 SCV002803134 likely benign Factor V deficiency; Ischemic stroke; Thrombophilia due to activated protein C resistance; Budd-Chiari syndrome; Pregnancy loss, recurrent, susceptibility to, 1 2021-08-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411880 SCV004126271 benign not provided 2022-04-01 criteria provided, single submitter clinical testing F5: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003411880 SCV005258061 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003920717 SCV004728181 likely benign F5-related disorder 2019-02-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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