ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.313+9GT[20]

dbSNP: rs59956343
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000370919 SCV000460125 uncertain significance Hypophosphatemic Rickets, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000276385 SCV000460126 uncertain significance Arterial calcification, generalized, of infancy, 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000948318 SCV001094520 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000948318 SCV001827918 benign not provided 2019-10-09 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731627 SCV001984363 benign not specified 2020-07-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000948318 SCV001928729 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000948318 SCV001968957 likely benign not provided no assertion criteria provided clinical testing

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