ClinVar Miner

Submissions for variant NM_018060.4(IARS2):c.2316A>G (p.Glu772=)

gnomAD frequency: 0.00004  dbSNP: rs377178843
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421021 SCV000529897 likely benign not specified 2016-07-26 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 RCV002522392 SCV002957837 likely benign not provided 2024-04-02 criteria provided, single submitter clinical testing

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