ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6379+19C>T

gnomAD frequency: 0.00001  dbSNP: rs781978328
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002125122 SCV002444979 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-02-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587314 SCV005076859 likely benign not specified 2024-04-09 criteria provided, single submitter clinical testing

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