ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.*1043A>G (rs7754561)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000372927 SCV000460237 benign Hypophosphatemic Rickets, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280683 SCV000460238 benign Arterial calcification, generalized, of infancy, 1 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000022719 SCV000044008 risk factor Obesity 2005-02-01 no assertion criteria provided literature only

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