ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.313+9GT[16]

dbSNP: rs59956343
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000404568 SCV000460137 uncertain significance Arterial calcification, generalized, of infancy, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000308688 SCV000460138 uncertain significance Hypophosphatemic Rickets, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000975128 SCV001123005 likely benign not provided 2023-10-11 criteria provided, single submitter clinical testing
GeneDx RCV000975128 SCV001838685 benign not provided 2021-05-12 criteria provided, single submitter clinical testing

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