ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.328C>T (p.Arg110Ter) (rs1555943484)

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Total submissions: 2
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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 RCV000660244 SCV000782262 pathogenic Coffin-Lowry syndrome 2016-11-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV001257663 SCV001434474 pathogenic Intellectual disability 2020-04-20 criteria provided, single submitter clinical testing

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