ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.699A>G (p.Thr233=)

dbSNP: rs761636459
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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 RCV001848339 SCV002106209 uncertain significance Hereditary spastic paraplegia 2020-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543389 SCV003461372 likely benign Hereditary spastic paraplegia 48 2025-01-06 criteria provided, single submitter clinical testing

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