ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.2104-2A>G (rs1567934754)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Diseases Diagnostic Center,Koc University Hospital RCV000786074 SCV000864407 likely pathogenic Spastic paraplegia 7 2018-12-18 no assertion criteria provided clinical testing

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