ClinVar Miner

Submissions for variant NM_001128126.3(AP4S1):c.306+4275G>C

dbSNP: rs528491755
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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 RCV001848263 SCV002105961 likely benign Hereditary spastic paraplegia 2018-03-01 criteria provided, single submitter clinical testing

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