ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3107G>A (p.Arg1036His)

gnomAD frequency: 0.00003  dbSNP: rs782758177
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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 RCV000804267 SCV000944169 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-02-22 criteria provided, single submitter clinical testing
GeneDx RCV001592997 SCV001816780 uncertain significance not provided 2019-08-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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