ClinVar Miner

Submissions for variant NM_001128126.3(AP4S1):c.306+50G>T

dbSNP: rs1315033150
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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 RCV001848249 SCV002105917 uncertain significance Hereditary spastic paraplegia 2021-04-11 criteria provided, single submitter clinical testing

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