ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1045G>T (p.Glu349Ter)

dbSNP: rs370490152
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170399 SCV000222822 likely pathogenic Heterotopia, periventricular, X-linked dominant 2011-05-03 criteria provided, single submitter clinical testing

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