ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1557C>T (p.Asn519=)

gnomAD frequency: 0.00002  dbSNP: rs773385237
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187336 SCV000240919 benign not specified 2013-10-01 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 RCV000393652 SCV000464173 uncertain significance Juvenile myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765168 SCV000763168 likely benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2022-07-25 criteria provided, single submitter clinical testing

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