ClinVar Miner

Submissions for variant NM_001128126.3(AP4S1):c.124C>A (p.Arg42=)

gnomAD frequency: 0.00003  dbSNP: rs387906970
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116370 SCV000150294 uncertain significance not provided 2013-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086167 SCV001007134 benign Spastic paraplegia 2023-06-15 criteria provided, single submitter clinical testing

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