ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1360C>T (p.Leu454Phe)

gnomAD frequency: 0.00006  dbSNP: rs371402624
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288778 SCV001476130 uncertain significance not provided 2019-12-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847230 SCV002106135 uncertain significance Hereditary spastic paraplegia 2020-08-20 criteria provided, single submitter clinical testing

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