ClinVar Miner

Submissions for variant NM_017460.6(CYP3A4):c.902T>C (p.Ile301Thr)

dbSNP: rs1815413655
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV001261942 SCV002519473 pathogenic Vitamin D-dependent rickets, type 3 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV001261942 SCV001439291 pathogenic Vitamin D-dependent rickets, type 3 2020-10-26 no assertion criteria provided literature only

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