ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.182+5G>T

dbSNP: rs766166355
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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 RCV001847497 SCV002104913 uncertain significance Hereditary spastic paraplegia 2020-10-05 criteria provided, single submitter clinical testing

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