ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.122+9C>T

gnomAD frequency: 0.00010  dbSNP: rs968898541
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001466138 SCV001670137 likely benign Spastic paraplegia 2021-12-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847043 SCV002104543 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918355 SCV004727871 likely benign CYP7B1-related disorder 2023-05-31 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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