ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5218-9G>T

gnomAD frequency: 0.00008  dbSNP: rs782801210
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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 RCV001497502 SCV001702233 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-09-28 criteria provided, single submitter clinical testing
GeneDx RCV001587435 SCV001814536 likely benign not provided 2020-03-17 criteria provided, single submitter clinical testing

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