ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6088G>A (p.Val2030Met)

gnomAD frequency: 0.00001  dbSNP: rs781920955
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199955 SCV000250395 uncertain significance not provided 2024-01-05 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 does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV003765248 SCV004576486 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-06-10 criteria provided, single submitter clinical testing

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