ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3965C>T (p.Thr1322Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002814367 SCV003035473 uncertain significance Cardiac valvular dysplasia, X-linked 2022-03-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003777005 SCV004577076 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-10-10 criteria provided, single submitter clinical testing

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