ClinVar Miner

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

dbSNP: rs879243445
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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 RCV000377747 SCV000460131 uncertain significance Hypophosphatemic Rickets, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000283267 SCV000460132 uncertain significance Arterial calcification, generalized, of infancy, 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001444874 SCV001647888 likely benign not provided 2024-10-23 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731628 SCV001984364 uncertain significance not specified 2020-07-19 criteria provided, single submitter clinical testing

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