ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1454+13C>T

gnomAD frequency: 0.00006  dbSNP: rs763660409
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002132267 SCV002406799 benign Hereditary spastic paraplegia 48 2023-06-15 criteria provided, single submitter clinical testing

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