ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4222G>A (p.Gly1408Ser)

gnomAD frequency: 0.00001  dbSNP: rs797045578
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192676 SCV000247395 uncertain significance not specified 2015-06-23 criteria provided, single submitter clinical testing
GeneDx RCV001571620 SCV001796127 uncertain significance not provided 2024-05-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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