ClinVar Miner

Submissions for variant NM_183075.3(CYP2U1):c.639C>T (p.His213=)

gnomAD frequency: 0.00021  dbSNP: rs147256952
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861541 SCV001001895 likely benign Spastic paraplegia 2023-11-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849144 SCV002104531 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432790 SCV004148668 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing CYP2U1: BP4, BP7

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