ClinVar Miner

Submissions for variant NM_001128126.3(AP4S1):c.306+4251G>C

gnomAD frequency: 0.00001  dbSNP: rs1226099981
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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 RCV001848260 SCV002105950 uncertain significance Hereditary spastic paraplegia 2017-01-31 criteria provided, single submitter clinical testing

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