ClinVar Miner

Submissions for variant NM_018060.4(IARS2):c.390+7A>G

gnomAD frequency: 0.00185  dbSNP: rs35204279
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000890267 SCV000522354 likely benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000890267 SCV001033999 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000890267 SCV003916554 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing IARS2: BP4

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