ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.164A>G (p.Glu55Gly)

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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 RCV004764665 SCV005374254 uncertain significance Child syndrome 2024-09-22 criteria provided, single submitter clinical testing

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