ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5150C>T (p.Pro1717Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002999899 SCV003302925 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-09-06 criteria provided, single submitter clinical testing
GeneDx RCV003327581 SCV004034367 uncertain significance not provided 2024-06-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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