ClinVar Miner

Submissions for variant NM_024514.5(CYP2R1):c.31_40dup (p.Leu14fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005046494 SCV005676586 likely pathogenic Vitamin D hydroxylation-deficient rickets, type 1B 2024-06-01 criteria provided, single submitter clinical testing

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