ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3208-5del

dbSNP: rs781907036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198394 SCV000250334 benign not specified 2015-05-22 criteria provided, single submitter clinical testing This variant was found in TAADV2-PANCARD,TAADV2-1
Labcorp Genetics (formerly Invitae), Labcorp RCV002515362 SCV003466099 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-06-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000198394 SCV005203216 uncertain significance not specified 2024-07-08 criteria provided, single submitter clinical testing

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