ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.1540G>A (p.Glu514Lys)

gnomAD frequency: 0.00009  dbSNP: rs147001986
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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 RCV001957758 SCV002213187 likely benign not provided 2024-10-09 criteria provided, single submitter clinical testing
GeneDx RCV001957758 SCV005437834 uncertain significance not provided 2024-06-12 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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