ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.19C>T (p.Arg7Trp)

dbSNP: rs941318584
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002233043 SCV000762345 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-08-03 criteria provided, single submitter clinical testing
GeneDx RCV001731831 SCV001982578 likely benign not provided 2021-03-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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