ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7451G>A (p.Arg2484His)

gnomAD frequency: 0.00002  dbSNP: rs782338659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001345760 SCV001539899 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-12-06 criteria provided, single submitter clinical testing
GeneDx RCV003120574 SCV003798723 uncertain significance not provided 2023-02-03 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

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