ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1442C>G (p.Thr481Arg)

dbSNP: rs376713807
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848231 SCV002105841 uncertain significance Hereditary spastic paraplegia 2017-05-29 criteria provided, single submitter clinical testing

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