ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.48G>C (p.Glu16Asp)

gnomAD frequency: 0.00001  dbSNP: rs1327104134
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001596171 SCV001829336 uncertain significance not provided 2021-08-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003771804 SCV004578398 benign Coffin-Lowry syndrome; Intellectual disability, X-linked 19 2022-12-23 criteria provided, single submitter clinical testing

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