ClinVar Miner

Submissions for variant NM_012156.2(EPB41L1):c.1338T>C (p.His446=)

gnomAD frequency: 0.09605  dbSNP: rs2295568
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004716963 SCV005308667 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116977 SCV000151097 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.
PreventionGenetics, part of Exact Sciences RCV003975020 SCV004790918 benign EPB41L1-related disorder 2019-11-14 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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