ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.64-5T>C

gnomAD frequency: 0.00063  dbSNP: rs201860746
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124869 SCV000168308 benign not specified 2014-04-02 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.
Illumina Laboratory Services, Illumina RCV000352498 SCV000464155 uncertain significance Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV003764856 SCV000562691 benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2023-07-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000124869 SCV000613246 benign not specified 2017-04-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000124869 SCV000855536 likely benign not specified 2017-07-31 criteria provided, single submitter clinical testing

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