ClinVar Miner

Submissions for variant NM_001174089.1(SLC4A11):c.-111T>C

gnomAD frequency: 0.65355  dbSNP: rs6107260
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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 RCV001543328 SCV001761879 benign Corneal dystrophy-perceptive deafness syndrome 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543329 SCV001761880 benign Congenital hereditary endothelial dystrophy of cornea 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717823 SCV005309390 benign not provided criteria provided, single submitter not provided

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