ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7365C>G (p.Ser2455Arg)

gnomAD frequency: 0.00010  dbSNP: rs199677057
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555130 SCV000639831 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000606289 SCV000729577 likely benign not specified 2018-02-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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