ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.20G>T (p.Arg7Leu)

dbSNP: rs2068078358
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331788 SCV001523903 uncertain significance Corneal dystrophy, Fuchs endothelial, 4 2020-02-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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