ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5686+13T>C

gnomAD frequency: 0.00001  dbSNP: rs1057520884
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418195 SCV000519062 likely benign not specified 2015-11-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062345 SCV002476758 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-05-05 criteria provided, single submitter clinical testing

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