ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1254C>G (p.Leu418=)

gnomAD frequency: 0.00004  dbSNP: rs763868444
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Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002538913 SCV001003003 likely benign Hereditary spastic paraplegia 48 2025-01-05 criteria provided, single submitter clinical testing

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