ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1069G>A (p.Glu357Lys)

gnomAD frequency: 0.00170  dbSNP: rs505760
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124871 SCV000168311 benign not specified 2013-08-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV003764858 SCV000562682 benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-11-08 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514956 SCV000610828 likely benign not provided 2017-02-27 criteria provided, single submitter clinical testing

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