ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.840G>A (p.Gln280=)

gnomAD frequency: 0.00123  dbSNP: rs398124421
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082277 SCV000114226 benign not specified 2013-06-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082277 SCV000152445 benign not specified 2013-04-10 criteria provided, single submitter clinical testing
GeneDx RCV001689632 SCV001915584 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001689632 SCV002383188 likely benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689632 SCV005212270 likely benign not provided criteria provided, single submitter not provided

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