ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.1850C>A (p.Ala617Asp)

gnomAD frequency: 0.00001  dbSNP: rs549244691
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723980 SCV000229217 uncertain significance not provided 2014-06-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000177368 SCV000596695 likely benign not specified 2016-09-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000723980 SCV002455356 benign not provided 2023-09-22 criteria provided, single submitter clinical testing

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