ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7896G>A (p.Trp2632Ter)

dbSNP: rs398122812
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000022819 SCV000222821 pathogenic Heterotopia, periventricular, X-linked dominant 2008-03-10 criteria provided, single submitter clinical testing
OMIM RCV000022819 SCV000044108 pathogenic Heterotopia, periventricular, X-linked dominant 2010-01-01 no assertion criteria provided literature only

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