ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.313+8_313+9insTT

dbSNP: rs879243445
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000263217 SCV000460129 uncertain significance Hypophosphatemic Rickets, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000318437 SCV000460130 uncertain significance Arterial calcification, generalized, of infancy, 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001453349 SCV001657038 likely benign not provided 2023-10-04 criteria provided, single submitter clinical testing

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