ClinVar Miner

Submissions for variant NM_000130.5(F5):c.1601= (p.Arg534=) (rs6025)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000211384 SCV000268370 drug response hormonal contraceptives for systemic use response - Toxicity/ADR 2017-11-28 reviewed by expert panel curation PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514863 SCV000610796 pathogenic not provided 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000514863 SCV000977406 benign not provided 2018-06-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001081351 SCV000999944 benign Factor V deficiency 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000514863 SCV001246100 pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing

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