ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1312-19C>T

gnomAD frequency: 0.00073  dbSNP: rs186277796
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002536172 SCV003283807 benign Hereditary spastic paraplegia 48 2024-10-07 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Wuerzburg RCV000850330 SCV000992505 uncertain significance Spastic paraplegia no assertion criteria provided clinical testing

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