ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr)

dbSNP: rs72551323
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734041 SCV000862152 uncertain significance not provided 2018-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001462205 SCV001666118 likely benign Cholestanol storage disease 2025-01-27 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000734041 SCV004225988 uncertain significance not provided 2023-01-27 criteria provided, single submitter clinical testing BP4
PreventionGenetics, part of Exact Sciences RCV004748954 SCV005352900 likely benign CYP27A1-related disorder 2024-07-16 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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