ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.1227+14T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002927224 SCV003259982 likely benign Coffin-Lowry syndrome; Intellectual disability, X-linked 19 2024-10-24 criteria provided, single submitter clinical testing

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