ClinVar Miner

Submissions for variant NM_007347.5(AP4E1):c.852A>G (p.Leu284=)

gnomAD frequency: 0.00287  dbSNP: rs114575519
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861176 SCV001001418 benign Spastic paraplegia 2024-01-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849136 SCV002105595 uncertain significance Hereditary spastic paraplegia 2018-11-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002062238 SCV002497788 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing AP4E1: BP4, BP7

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