ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.850+18A>T

gnomAD frequency: 0.00004  dbSNP: rs374380529
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001815128 SCV002062022 uncertain significance not specified 2018-07-17 criteria provided, single submitter clinical testing
Invitae RCV002074237 SCV002365776 likely benign Spastic paraplegia 2024-01-31 criteria provided, single submitter clinical testing

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