ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2735C>T (p.Ser912Leu)

gnomAD frequency: 0.00003  dbSNP: rs782140888
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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 RCV001349995 SCV001544365 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-06-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145603 SCV003832741 uncertain significance not provided 2021-06-24 criteria provided, single submitter clinical testing

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