ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.627G>A (p.Leu209=)

gnomAD frequency: 0.00003  dbSNP: rs782118838
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000388027 SCV000333185 uncertain significance not provided 2015-07-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001481815 SCV001686166 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-09-03 criteria provided, single submitter clinical testing

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