ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) (rs1044498)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178259 SCV000230306 benign not specified 2015-04-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355961 SCV000460145 benign Arterial calcification of infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265863 SCV000460146 benign Hypophosphatemic Rickets, Recessive 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000014558 SCV000034810 risk factor Insulin resistance, susceptibility to 2016-08-15 no assertion criteria provided literature only
OMIM RCV000014559 SCV000034811 risk factor Diabetes mellitus type 2 2006-12-01 no assertion criteria provided literature only
OMIM RCV000033192 SCV000057037 risk factor Obesity 2006-12-01 no assertion criteria provided literature only

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