ClinVar Miner

Submissions for variant NM_001376013.1(EPB41):c.902C>G (p.Thr301Arg)

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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 RCV004813496 SCV005438509 likely pathogenic Elliptocytosis 1 2024-12-18 criteria provided, single submitter clinical testing

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