ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5448G>A (p.Ala1816=)

gnomAD frequency: 0.00006  dbSNP: rs782806731
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000387082 SCV000332727 uncertain significance not provided 2015-07-08 criteria provided, single submitter clinical testing
Invitae RCV001407250 SCV001609217 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2021-12-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977733 SCV004786747 likely benign FLNA-related condition 2023-01-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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