ClinVar Miner

Submissions for variant NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=)

gnomAD frequency: 0.00001  dbSNP: rs752693324
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501720 SCV000593241 likely benign not specified 2016-03-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000870590 SCV001012099 benign Spastic paraplegia 2024-01-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848865 SCV002105150 likely benign Hereditary spastic paraplegia 2020-11-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259968 SCV002539378 benign Hereditary spastic paraplegia 51 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259969 SCV002539379 benign Stuttering, familial persistent, 1 2021-12-05 criteria provided, single submitter clinical testing

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