ClinVar Miner

Submissions for variant NM_001376013.1(EPB41):c.640G>A (p.Val214Ile)

gnomAD frequency: 0.02894  dbSNP: rs111642750
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001476 SCV001158744 uncertain significance Elliptocytosis 1 2023-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068772 SCV002340368 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002068772 SCV005284934 benign not provided criteria provided, single submitter not provided

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