ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.314dup (p.Asn105fs)

dbSNP: rs747514385
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV001391404 SCV001451293 pathogenic Hereditary spastic paraplegia 5A criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847220 SCV002104554 likely pathogenic Hereditary spastic paraplegia 2021-09-09 criteria provided, single submitter clinical testing

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