ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5533C>T (p.Arg1845Cys)

gnomAD frequency: 0.00001  dbSNP: rs782307604
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266376 SCV001444550 uncertain significance Inborn genetic diseases 2018-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770388 SCV004584946 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-12-12 criteria provided, single submitter clinical testing

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