ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.88+201A>C

gnomAD frequency: 0.19777  dbSNP: rs6037508
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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 RCV001543289 SCV001761828 benign Corneal dystrophy-perceptive deafness syndrome 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543290 SCV001761829 benign Congenital hereditary endothelial dystrophy of cornea 2021-07-10 criteria provided, single submitter clinical testing

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