ClinVar Miner

Submissions for variant NM_007347.5(AP4E1):c.944-6T>A

gnomAD frequency: 0.00001  dbSNP: rs775899244
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820126 SCV000960822 likely benign Spastic paraplegia 2022-07-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849121 SCV002105617 uncertain significance Hereditary spastic paraplegia 2017-04-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955531 SCV004769057 likely benign AP4E1-related disorder 2019-11-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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