ClinVar Miner

Submissions for variant NM_021870.3(FGG):c.207_208dup (p.Glu70fs)

dbSNP: rs2110850824
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730003 SCV001976741 pathogenic Familial dysfibrinogenemia 2021-08-10 criteria provided, single submitter clinical testing PVS1, PM2, PP3

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