ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.2274G>A (p.Leu758=)

gnomAD frequency: 0.00001  dbSNP: rs965077399
Minimum review status: Collection method:
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 RCV002096489 SCV002395062 likely benign Hereditary spastic paraplegia 48 2025-01-01 criteria provided, single submitter clinical testing

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