ClinVar Miner

Submissions for variant NM_007347.5(AP4E1):c.822A>G (p.Gln274=)

gnomAD frequency: 0.00001  dbSNP: rs991693986
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995355 SCV001149475 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing AP4E1: BP4, BP7
Invitae RCV001217167 SCV001389000 likely benign Spastic paraplegia 2023-03-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819705 SCV002064552 likely benign not specified 2019-08-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847128 SCV002105228 uncertain significance Hereditary spastic paraplegia 2021-06-16 criteria provided, single submitter clinical testing

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