ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.1748G>A (p.Arg583His)

gnomAD frequency: 0.00004  dbSNP: rs530540257
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817486 SCV002068373 uncertain significance not specified 2018-02-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847338 SCV002105510 uncertain significance Hereditary spastic paraplegia 2018-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346699 SCV004050637 uncertain significance Hereditary spastic paraplegia 47 2023-04-11 criteria provided, single submitter clinical testing

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