ClinVar Miner

Submissions for variant NM_006796.3(AFG3L2):c.1164+1G>A

dbSNP: rs1598832526
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791162 SCV000930437 pathogenic Spinocerebellar ataxia type 28 2019-04-27 criteria provided, single submitter clinical testing

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