ClinVar Miner

Submissions for variant NM_025150.5(TARS2):c.1034A>G (p.His345Arg)

gnomAD frequency: 0.00560  dbSNP: rs115390773
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000514290 SCV000517960 benign not provided 2019-08-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514290 SCV000610775 likely benign not provided 2017-09-19 criteria provided, single submitter clinical testing
Invitae RCV000514290 SCV001033591 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514290 SCV002062826 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing TARS2: BP4, BS2
Mayo Clinic Laboratories, Mayo Clinic RCV000514290 SCV000802766 benign not provided 2017-06-14 no assertion criteria provided clinical testing

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