ClinVar Miner

Submissions for variant NM_000785.4(CYP27B1):c.566A>G (p.Glu189Gly)

dbSNP: rs118204012
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000001741 SCV005629930 uncertain significance Vitamin D-dependent rickets, type 1A 2024-05-30 criteria provided, single submitter clinical testing
OMIM RCV000001741 SCV000021897 pathogenic Vitamin D-dependent rickets, type 1A 2013-03-01 no assertion criteria provided literature only

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