ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.891C>T (p.Ala297=)

gnomAD frequency: 0.00004  dbSNP: rs763250825
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001444748 SCV001647759 likely benign Hereditary spastic paraplegia 48 2024-10-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001664487 SCV001880470 likely benign not specified 2021-04-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849139 SCV002106218 uncertain significance Hereditary spastic paraplegia 2021-04-12 criteria provided, single submitter clinical testing

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