ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.1989C>T (p.Asp663=)

gnomAD frequency: 0.00549  dbSNP: rs139718656
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194230 SCV000248735 likely benign not specified 2015-08-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317705 SCV000849913 likely benign Inborn genetic diseases 2015-09-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000870515 SCV001012018 benign Coffin-Lowry syndrome; Intellectual disability, X-linked 19 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001711499 SCV001942670 benign not provided 2020-02-06 criteria provided, single submitter clinical testing

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