ClinVar Miner

Submissions for variant NC_000017.11:g.34252769A>G

gnomAD frequency: 0.27904  dbSNP: rs1024611
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015271 SCV000035530 risk factor Spina bifida, susceptibility to 2009-01-15 no assertion criteria provided literature only
OMIM RCV000015272 SCV000035531 risk factor Coronary artery disease, modifier of 2009-01-15 no assertion criteria provided literature only
OMIM RCV000015273 SCV000035532 pathogenic Coronary artery disease, development of, in HIV 2009-01-15 no assertion criteria provided literature only
OMIM RCV000015274 SCV000035533 risk factor Mycobacterium tuberculosis, susceptibility to 2009-01-15 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003974826 SCV004795392 benign CCL2-related disorder 2023-07-10 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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