ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.89+1G>A

dbSNP: rs1855631590
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252370 SCV001428125 pathogenic Autosomal recessive spinocerebellar ataxia 7 2019-01-01 no assertion criteria provided clinical testing

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