ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5866G>A (p.Asp1956Asn)

gnomAD frequency: 0.00001  dbSNP: rs930325486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001300840 SCV001489990 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-11-20 criteria provided, single submitter clinical testing
GeneDx RCV002511074 SCV002820504 uncertain significance not provided 2023-11-10 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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