ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5190C>T (p.His1730=)

gnomAD frequency: 0.00007  dbSNP: rs781793192
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503986 SCV000594797 likely benign not specified 2016-03-04 criteria provided, single submitter clinical testing
Invitae RCV000873359 SCV001015339 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-07 criteria provided, single submitter clinical testing
GeneDx RCV001591138 SCV001825066 likely benign not provided 2021-05-25 criteria provided, single submitter clinical testing

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