ClinVar Miner

Submissions for variant NM_005202.4(COL8A2):c.*12G>T

dbSNP: rs3738360
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001639904 SCV001849572 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658354 SCV001876245 benign Corneal dystrophy, Fuchs endothelial, 1 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658355 SCV001876246 benign Posterior polymorphous corneal dystrophy 2 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001639904 SCV005285133 benign not provided criteria provided, single submitter not provided

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