ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3208-12T>C

gnomAD frequency: 0.00004  dbSNP: rs1432559993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001570658 SCV001794990 likely benign not provided 2021-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771739 SCV004569286 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2025-02-03 criteria provided, single submitter clinical testing

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