ClinVar Miner

Submissions for variant NM_007347.5(AP4E1):c.2346+10C>T

gnomAD frequency: 0.00228  dbSNP: rs112190952
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601350 SCV000717485 likely benign not specified 2017-03-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000861766 SCV001002163 benign Spastic paraplegia 2024-11-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000601350 SCV002064563 likely benign not specified 2018-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260023 SCV002539365 benign Hereditary spastic paraplegia 51 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260024 SCV002539366 benign Stuttering, familial persistent, 1 2021-12-05 criteria provided, single submitter clinical testing

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