ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.3632A>C (p.Glu1211Ala)

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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 RCV003989958 SCV004806099 likely pathogenic Spinocerebellar ataxia 45 2024-03-25 criteria provided, single submitter clinical testing

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