ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.138_139dup (p.Asn47fs)

dbSNP: rs2067802877
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253547 SCV001429317 pathogenic Heterotopia, periventricular, X-linked dominant 2019-06-03 criteria provided, single submitter clinical testing This variant was identified as de novo

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