ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.729+140C>A

gnomAD frequency: 0.50909  dbSNP: rs2144771
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543239 SCV001761766 benign Corneal dystrophy-perceptive deafness syndrome 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543240 SCV001761767 benign Congenital hereditary endothelial dystrophy of cornea 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717820 SCV005309379 benign not provided criteria provided, single submitter not provided

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