ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5870C>G (p.Ser1957Cys)

gnomAD frequency: 0.00004  dbSNP: rs781962741
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774295 SCV002002115 uncertain significance not provided 2020-06-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002540470 SCV003485290 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-01-27 criteria provided, single submitter clinical testing

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