ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.4310C>T (p.Pro1437Leu)

dbSNP: rs1453585230
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002279127 SCV002567686 uncertain significance not provided 2022-02-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002279127 SCV003026589 benign not provided 2023-10-10 criteria provided, single submitter clinical testing

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