ClinVar Miner

Submissions for variant NM_001128126.3(AP4S1):c.306+4182dup

dbSNP: rs766477779
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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 RCV000194220 SCV000246452 likely benign not specified 2014-05-08 criteria provided, single submitter clinical testing
GeneDx RCV000194220 SCV000569400 likely benign not specified 2018-02-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847854 SCV002105928 likely benign Hereditary spastic paraplegia 2020-08-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054252 SCV002405125 benign Spastic paraplegia 2024-01-28 criteria provided, single submitter clinical testing

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