ClinVar Miner

Submissions for variant NM_000132.4(F8):c.4247C>T (p.Pro1416Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004762494 SCV005372595 uncertain significance not provided 2023-06-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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