ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2189C>G (p.Thr730Ser)

dbSNP: rs2067736058
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001978151 SCV002266644 uncertain significance Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2021-08-28 criteria provided, single submitter clinical testing

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