ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1836G>A (p.Ser612=)

gnomAD frequency: 0.00001  dbSNP: rs1461515007
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001548289 SCV001768171 likely benign not provided 2021-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072018 SCV002485311 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-12-22 criteria provided, single submitter clinical testing

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