ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.1668G>A (p.Ala556=)

gnomAD frequency: 0.00003  dbSNP: rs368073003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000318069 SCV000433555 uncertain significance Corneal Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000928614 SCV001074227 likely benign not provided 2024-09-23 criteria provided, single submitter clinical testing

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