ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2962G>T (p.Gly988Ter)

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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 RCV004764716 SCV005374346 likely pathogenic Alport syndrome 3b, autosomal recessive 2024-09-22 criteria provided, single submitter clinical testing

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