ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2945-11C>T

gnomAD frequency: 0.00002  dbSNP: rs782670720
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001574672 SCV001801535 likely benign not provided 2019-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002573231 SCV003496785 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-11-05 criteria provided, single submitter clinical testing

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