ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.4855G>T (p.Asp1619Tyr)

gnomAD frequency: 0.00002  dbSNP: rs752659701
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001572902 SCV002003189 uncertain significance not provided 2021-02-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001572902 SCV002269771 benign not provided 2023-10-03 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572902 SCV001797992 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001572902 SCV001966078 uncertain significance not provided no assertion criteria provided clinical testing

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