ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.90G>A (p.Thr30=)

gnomAD frequency: 0.00059  dbSNP: rs140429638
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116953 SCV000151062 uncertain significance not provided 2013-11-26 criteria provided, single submitter clinical testing
GeneDx RCV000186626 SCV000168309 benign not specified 2013-09-19 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.
Illumina Laboratory Services, Illumina RCV000406057 SCV000464156 uncertain significance Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV003764823 SCV000640930 likely benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2023-12-11 criteria provided, single submitter clinical testing

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