ClinVar Miner

Submissions for variant NM_000130.5(F5):c.1000A>G (p.Arg334Gly)

gnomAD frequency: 0.00021  dbSNP: rs118203905
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753395 SCV001986117 uncertain significance not provided 2019-08-02 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 14660667, 30297698, 12091344, 20051284, 9454741, 30630204, 20218141, 31180159, 31589614, 33587123)
Labcorp Genetics (formerly Invitae), Labcorp RCV003761734 SCV002394825 benign Congenital factor V deficiency 2024-01-21 criteria provided, single submitter clinical testing
OMIM RCV000000677 SCV000020827 pathogenic Factor V Hong Kong 1998-10-01 no assertion criteria provided literature only
GeneReviews RCV002269817 SCV002555545 not provided Thrombophilia due to activated protein C resistance no assertion provided literature only

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