ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.313+9GT[17]

dbSNP: rs59956343
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000289088 SCV000460135 uncertain significance Hypophosphatemic Rickets, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000343673 SCV000460136 uncertain significance Arterial calcification, generalized, of infancy, 1 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502880 SCV000594550 likely benign not specified 2016-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000950717 SCV001097048 likely benign not provided 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000950717 SCV001912523 benign not provided 2019-10-21 criteria provided, single submitter clinical testing

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