ClinVar Miner

Submissions for variant NM_024514.5(CYP2R1):c.873A>G (p.Pro291=)

gnomAD frequency: 0.00013  dbSNP: rs184549196
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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 RCV000911140 SCV001056197 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495500 SCV002795461 likely benign Vitamin D hydroxylation-deficient rickets, type 1B 2021-09-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005408071 SCV006074509 likely benign not specified 2025-04-22 criteria provided, single submitter clinical testing

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