ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7468A>G (p.Met2490Val)

gnomAD frequency: 0.00001  dbSNP: rs782563616
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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 RCV001065270 SCV001230225 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-04-25 criteria provided, single submitter clinical testing
GeneDx RCV001759832 SCV001995567 uncertain significance not provided 2019-09-09 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 a deleterious effect

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