ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6286G>A (p.Asp2096Asn)

gnomAD frequency: 0.00001  dbSNP: rs781962577
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752495 SCV001997358 uncertain significance not provided 2019-09-09 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003772012 SCV004571082 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-05-25 criteria provided, single submitter clinical testing

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