ClinVar Miner

Submissions for variant NM_001040436.3(YARS2):c.1275-2dup

gnomAD frequency: 0.00357  dbSNP: rs565781501
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000224099 SCV000252572 benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224099 SCV000281551 uncertain significance not provided 2016-01-11 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000224099 SCV001024704 benign not provided 2025-01-24 criteria provided, single submitter clinical testing

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