ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1463G>A (p.Arg488Gln)

gnomAD frequency: 0.00001  dbSNP: rs1315056698
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001232773 SCV001405341 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2021-08-31 criteria provided, single submitter clinical testing

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