ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.544A>G (p.Lys182Glu)

gnomAD frequency: 0.11994  dbSNP: rs59422275
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455380 SCV000539110 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF
GeneDx RCV000839786 SCV000981693 benign not provided 2018-03-24 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001512743 SCV001720203 benign Vici syndrome 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000839786 SCV005250125 benign not provided criteria provided, single submitter not provided

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