ClinVar Miner

Submissions for variant NC_000015.10:g.58431740G>A

gnomAD frequency: 0.33491  dbSNP: rs2070895
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001723570 SCV001950585 benign not provided 2018-11-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18364377, 20222961, 10894818)
Breakthrough Genomics, Breakthrough Genomics RCV001723570 SCV005289463 benign not provided criteria provided, single submitter not provided
OMIM RCV000015539 SCV000035804 risk factor Diabetes mellitus type 2, susceptibility to 2008-06-01 no assertion criteria provided literature only
OMIM RCV000015540 SCV000035805 association High density lipoprotein cholesterol level quantitative trait locus 12 2008-06-01 no assertion criteria provided literature only

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