ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.432T>G (p.Tyr144Ter)

dbSNP: rs2148701884
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001376010 SCV001573017 pathogenic Coffin-Lowry syndrome 2020-03-05 criteria provided, single submitter clinical testing

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