ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.142del (p.Val48fs)

gnomAD frequency: 0.00001  dbSNP: rs764326593
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002267591 SCV002549721 likely pathogenic Hereditary spastic paraplegia 50 2022-07-18 criteria provided, single submitter clinical testing

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