ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6967G>A (p.Val2323Met)

dbSNP: rs863223625
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197351 SCV000250399 uncertain significance not provided 2021-02-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function

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