ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) (rs1555924331)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000660251 SCV000782269 pathogenic Coffin-Lowry syndrome 2016-11-01 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000660251 SCV000845524 likely pathogenic Coffin-Lowry syndrome 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714792 SCV000845525 likely pathogenic Mental retardation, X-linked 19 2018-08-07 criteria provided, single submitter clinical testing

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