ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1732C>T (p.Gln578Ter)

dbSNP: rs1057519342
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816651 SCV005072037 pathogenic Retinal dystrophy 2021-01-01 criteria provided, single submitter clinical testing
OMIM RCV000416332 SCV000494088 pathogenic Hereditary spastic paraplegia 48 2017-01-26 no assertion criteria provided literature only

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