ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.1354-12T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical and Surgical Sciences, University of Bologna RCV004799658 SCV005420938 likely pathogenic Coffin-Lowry syndrome 2024-12-06 criteria provided, single submitter clinical testing The variant satisfied PM2 and PP3 criteria. We performed transcript analysis which demonstrated its impact on splicing, allowing to add the PS3 criterion and to classify it as Likely Pathogenic

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