ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.1036T>C (p.Leu346=)

gnomAD frequency: 0.00005  dbSNP: rs535728519
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730948 SCV000858716 uncertain significance not provided 2018-06-18 criteria provided, single submitter clinical testing
Invitae RCV001485552 SCV001689989 likely benign Spastic paraplegia 2024-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955459 SCV004768440 likely benign CYP7B1-related disorder 2021-12-17 criteria provided, single submitter 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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