ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.439A>G (p.Arg147Gly)

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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 RCV004821081 SCV005441992 uncertain significance Joubert syndrome 20 2024-12-19 criteria provided, single submitter clinical testing

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