ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.1964del (p.Leu655fs)

dbSNP: rs1555924704
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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 RCV000660250 SCV000782268 likely pathogenic Coffin-Lowry syndrome 2016-11-01 criteria provided, single submitter clinical testing

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