ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.295del (p.Leu99fs)

dbSNP: rs2115103191
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848334 SCV002106191 likely pathogenic Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing

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