ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.2101-10del

gnomAD frequency: 0.00116  dbSNP: rs200562612
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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 RCV000332542 SCV000460173 likely benign Hypophosphatemic Rickets, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000373264 SCV000460174 likely benign Arterial calcification, generalized, of infancy, 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000960890 SCV001107918 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000960890 SCV001794302 likely benign not provided 2018-12-24 criteria provided, single submitter clinical testing

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