ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5876G>A (p.Arg1959His)

gnomAD frequency: 0.00003  dbSNP: rs1198953814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229938 SCV001402401 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-02-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145437 SCV003832732 uncertain significance not provided 2019-07-10 criteria provided, single submitter clinical testing

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