ClinVar Miner

Submissions for variant NM_012096.3(APPL1):c.1262C>T (p.Pro421Leu)

gnomAD frequency: 0.00300  dbSNP: rs35776173
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822187 SCV002071067 benign not specified 2018-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077274 SCV002410702 benign not provided 2024-11-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489865 SCV002798129 likely benign Maturity-onset diabetes of the young type 14 2022-03-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003911025 SCV004722783 benign APPL1-related disorder 2019-08-12 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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