ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.5258T>G (p.Phe1753Cys)

gnomAD frequency: 0.00001  dbSNP: rs761508385
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202806 SCV000257815 uncertain significance not specified 2015-06-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057042 SCV002476464 likely benign not provided 2024-02-17 criteria provided, single submitter clinical testing

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