ClinVar Miner

Submissions for variant NM_012156.2(EPB41L1):c.555A>G (p.Glu185=)

gnomAD frequency: 0.01482  dbSNP: rs116334224
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000971686 SCV001119345 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000971686 SCV005308663 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116982 SCV000151102 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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