ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.1044G>A (p.Val348=)

gnomAD frequency: 0.00003  dbSNP: rs763730264
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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 RCV001822290 SCV002066380 uncertain significance not specified 2017-07-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847336 SCV002105377 uncertain significance Hereditary spastic paraplegia 2021-02-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346698 SCV004050669 uncertain significance Hereditary spastic paraplegia 47 2023-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003346698 SCV004299048 likely benign Hereditary spastic paraplegia 47 2023-01-26 criteria provided, single submitter clinical testing

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