ClinVar Miner

Submissions for variant NM_015340.4(LARS2):c.235-12G>A

gnomAD frequency: 0.00168  dbSNP: rs75240042
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419322 SCV000533068 likely benign not specified 2018-02-08 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000419322 SCV000711477 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 235-12G>A in intron 3 of LARS2: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (27/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs75240042).
Invitae RCV002525454 SCV003033941 benign not provided 2023-11-28 criteria provided, single submitter clinical testing

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