ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6915C>T (p.Tyr2305=)

gnomAD frequency: 0.00002  dbSNP: rs781910090
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002109062 SCV002439071 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2022-11-29 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV003313794 SCV004013024 uncertain significance Thrombocytopenia criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738149 SCV004563631 likely benign not provided 2023-04-17 criteria provided, single submitter clinical testing

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