ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5826C>T (p.His1942=)

gnomAD frequency: 0.00001  dbSNP: rs377667830
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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 RCV002217940 SCV002374237 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-10-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438933 SCV004165090 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing FLNA: BP4, BP7

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