ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.545G>A (p.Arg182His)

gnomAD frequency: 0.05453  dbSNP: rs3804505
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116950 SCV000313151 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000576851 SCV000677286 benign Juvenile myoclonic epilepsy 2017-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003764515 SCV001725156 benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2025-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001668123 SCV001886094 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
OMIM RCV000002144 SCV000022302 uncertain significance Myoclonic epilepsy, juvenile, susceptibility to, 1 2004-08-01 no assertion criteria provided literature only
Genetic Services Laboratory, University of Chicago RCV000116950 SCV000151059 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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