ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5447C>T (p.Ala1816Val)

gnomAD frequency: 0.00002  dbSNP: rs12395634
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001592602 SCV001823096 uncertain significance not provided 2020-12-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001866236 SCV002181821 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-04-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331190 SCV004039289 uncertain significance not specified 2023-08-24 criteria provided, single submitter clinical testing

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