ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu)

gnomAD frequency: 0.06310  dbSNP: rs17851770
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116947 SCV000313148 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000302395 SCV000464177 likely benign Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000302395 SCV000677283 benign Juvenile myoclonic epilepsy 2017-04-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003764818 SCV001716594 benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001610407 SCV001841618 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610407 SCV005222023 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116947 SCV000151056 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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