ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1954G>A (p.Glu652Lys)

gnomAD frequency: 0.00002  dbSNP: rs782043699
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773174 SCV002003919 uncertain significance not provided 2021-04-16 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 RCV002544150 SCV003513521 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-11-24 criteria provided, single submitter clinical testing

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