ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr)

gnomAD frequency: 0.00003  dbSNP: rs370202395
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002230319 SCV000543679 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-11-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513123 SCV000609423 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003488602 SCV004241199 uncertain significance not specified 2023-12-17 criteria provided, single submitter clinical testing

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