ClinVar Miner

Submissions for variant NM_015340.4(LARS2):c.879C>T (p.Gly293=)

dbSNP: rs368510008
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Total submissions: 2
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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 RCV001195331 SCV001365677 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Gly293Gly in exon 10 of LARS2: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.07% (12/16508) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs368510008).
Labcorp Genetics (formerly Invitae), Labcorp RCV003727947 SCV004535920 likely benign not provided 2024-11-26 criteria provided, single submitter clinical testing

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