ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.659G>A (p.Cys220Tyr)

dbSNP: rs774714248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001815090 SCV002061959 uncertain significance not specified 2017-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478045 SCV002793925 uncertain significance Duane-radial ray syndrome; Oculootoradial syndrome 2022-05-28 criteria provided, single submitter clinical testing

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