ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.1476C>T (p.Pro492=)

gnomAD frequency: 0.00016  dbSNP: rs200887225
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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) RCV000177372 SCV000229221 uncertain significance not provided 2014-07-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818428 SCV002068425 likely benign not specified 2021-12-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000177372 SCV002495070 likely benign not provided 2025-01-02 criteria provided, single submitter clinical testing

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