ClinVar Miner

Submissions for variant NM_004826.4(ECEL1):c.1865-3C>G

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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 RCV003988980 SCV004805427 uncertain significance Distal arthrogryposis type 5D 2024-03-25 criteria provided, single submitter research

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