ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.730-29_730-28insC

gnomAD frequency: 0.22402  dbSNP: rs147477986
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001807841 SCV002057586 benign Corneal dystrophy-perceptive deafness syndrome 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807840 SCV002057597 benign Congenital hereditary endothelial dystrophy of cornea 2021-07-15 criteria provided, single submitter clinical testing

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