ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.10673G>A (p.Arg3558Gln)

gnomAD frequency: 0.00004  dbSNP: rs137870998
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262675 SCV001440626 uncertain significance Spinocerebellar ataxia 45 2019-01-01 criteria provided, single submitter clinical testing

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