ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.5237T>C (p.Val1746Ala)

dbSNP: rs765754012
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001809085 SCV002059459 uncertain significance Spinocerebellar ataxia 45 2020-05-06 criteria provided, single submitter clinical testing

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