ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.788G>A (p.Arg263Gln)

dbSNP: rs769593495
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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 RCV000822378 SCV000963178 benign Congenital contractural arachnodactyly 2022-09-27 criteria provided, single submitter clinical testing
GeneDx RCV004702461 SCV005201290 uncertain significance not provided 2024-02-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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