ClinVar Miner

Submissions for variant NM_018060.4(IARS2):c.2073T>C (p.Tyr691=)

gnomAD frequency: 0.00035  dbSNP: rs141475516
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001570478 SCV001794777 likely benign not provided 2020-08-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001570478 SCV002369970 likely benign not provided 2024-02-26 criteria provided, single submitter clinical testing

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