ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1568G>A (p.Arg523His)

gnomAD frequency: 0.00004  dbSNP: rs370116509
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CMT Laboratory, Bogazici University RCV001353171 SCV001548332 uncertain significance Hereditary spastic paraplegia 48 2020-12-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001353171 SCV005061778 uncertain significance Hereditary spastic paraplegia 48 2024-06-24 criteria provided, single submitter clinical testing

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