ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.117G>A (p.Pro39=)

gnomAD frequency: 0.00002  dbSNP: rs527642993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848314 SCV002106129 uncertain significance Hereditary spastic paraplegia 2021-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543384 SCV003466593 likely benign Hereditary spastic paraplegia 48 2024-12-24 criteria provided, single submitter clinical testing

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