ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.7018G>A (p.Glu2340Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003991724 SCV004809886 uncertain significance Spinocerebellar ataxia 45 2024-04-04 criteria provided, single submitter clinical testing

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