ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.*1257del

gnomAD frequency: 0.00001  dbSNP: rs886061072
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000344604 SCV000460259 uncertain significance Arterial calcification, generalized, of infancy, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000392726 SCV000460260 uncertain significance Hypophosphatemic Rickets, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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