ClinVar Miner

Submissions for variant NM_001376013.1(EPB41):c.2019G>A (p.Lys673=)

gnomAD frequency: 0.00718  dbSNP: rs79677225
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000883659 SCV001026983 benign not provided 2025-01-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001804046 SCV002050273 benign Elliptocytosis 1 2022-06-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000883659 SCV005257832 likely benign not provided criteria provided, single submitter not provided

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