ClinVar Miner

Submissions for variant NM_001128126.3(AP4S1):c.306+4283C>T

gnomAD frequency: 0.00050  dbSNP: rs143795469
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503946 SCV000593254 likely benign not specified 2016-03-02 criteria provided, single submitter clinical testing
Invitae RCV002056836 SCV002401717 benign Spastic paraplegia 2021-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424054 SCV004129175 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing AP4S1: BP4, BP7

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