ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.1308C>A (p.Cys436Ter)

dbSNP: rs1160828151
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660249 SCV000782267 likely pathogenic Coffin-Lowry syndrome 2016-11-01 criteria provided, single submitter clinical testing

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