ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2479A>G (p.Ile827Val)

gnomAD frequency: 0.00004  dbSNP: rs371361696
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482285 SCV000573540 likely benign not provided 2021-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002526960 SCV003300373 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-05-06 criteria provided, single submitter clinical testing

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