ClinVar Miner

Submissions for variant NM_152274.5(CCNQ):c.47dup (p.Glu17fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004821211 SCV005442289 uncertain significance Syndactyly-telecanthus-anogenital and renal malformations syndrome 2024-12-19 criteria provided, single submitter clinical testing

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