ClinVar Miner

Submissions for variant NM_001377405.1(ATXN7):c.2654_2656del (p.Leu885del)

dbSNP: rs748138546
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198817 SCV001369812 benign Spinocerebellar ataxia 7 2018-11-16 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: A.

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