ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) (rs28935470)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178843 SCV000231008 pathogenic not provided 2015-02-11 criteria provided, single submitter clinical testing
OMIM RCV000012522 SCV000032756 pathogenic Oto-palato-digital syndrome, type II 2009-12-15 no assertion criteria provided literature only

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