ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.225G>T (p.Gly75=)

dbSNP: rs1555950495
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502004 SCV000596804 uncertain significance not specified 2016-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766849 SCV004597202 likely benign Coffin-Lowry syndrome; Intellectual disability, X-linked 19 2024-06-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737577 SCV005352286 likely benign RPS6KA3-related disorder 2024-04-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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