ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7024-18del

dbSNP: rs2148102297
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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 RCV002014441 SCV002300029 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-02-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005232776 SCV005877115 uncertain significance not provided 2023-12-29 criteria provided, single submitter clinical testing

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