ClinVar Miner

Submissions for variant NM_000376.3(VDR):c.1171C>T (p.Arg391Cys)

dbSNP: rs121909800
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000008197 SCV002054009 pathogenic Vitamin D-dependent rickets type II with alopecia criteria provided, single submitter clinical testing
OMIM RCV000008197 SCV000028404 pathogenic Vitamin D-dependent rickets type II with alopecia 1996-12-01 no assertion criteria provided literature only

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