ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1587G>A (p.Ala529=)

gnomAD frequency: 0.00021  dbSNP: rs377227885
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124874 SCV000168314 benign not specified 2014-05-13 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 RCV000287759 SCV000464174 uncertain significance Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000415996 SCV000493551 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003764859 SCV001002898 benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-02-08 criteria provided, single submitter clinical testing

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