ClinVar Miner

Submissions for variant NM_002542.6(OGG1):c.137G>A (p.Arg46Gln)

gnomAD frequency: 0.00233  dbSNP: rs104893751
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV001579581 SCV002501788 uncertain significance not provided 2021-07-31 criteria provided, single submitter clinical testing
OMIM RCV000008040 SCV000028245 pathogenic Clear cell carcinoma of kidney 2000-09-01 no assertion criteria provided literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579581 SCV001807791 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579581 SCV001967541 uncertain significance not provided no assertion criteria provided clinical testing

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