ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.797G>T (p.Gly266Val) (rs121908248)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000014563 SCV000608349 pathogenic Hypophosphatemic rickets, autosomal recessive, 2 2013-12-05 criteria provided, single submitter clinical testing
OMIM RCV000014563 SCV000034817 pathogenic Hypophosphatemic rickets, autosomal recessive, 2 2010-02-12 no assertion criteria provided literature only
OMIM RCV000014564 SCV000034818 pathogenic Arterial calcification, generalized, of infancy, 1 2010-02-12 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000014563 SCV000091172 not provided Hypophosphatemic rickets, autosomal recessive, 2 no assertion provided not provided

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