ClinVar Miner

Submissions for variant NM_004586.3(RPS6KA3):c.327del (p.Arg110fs)

dbSNP: rs1555943492
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000578332 SCV000680109 pathogenic Coffin-Lowry syndrome 2017-06-22 no assertion criteria provided clinical testing

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