ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.480-8T>C

gnomAD frequency: 0.00016  dbSNP: rs751472610
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707763 SCV000719377 likely benign not provided 2020-07-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000653965 SCV000775855 likely benign Charcot-Marie-Tooth disease type 2 2024-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001707763 SCV004140072 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing AARS1: BP4

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