ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.480-17C>T

gnomAD frequency: 0.00013  dbSNP: rs372467445
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002236956 SCV002510089 likely benign Charcot-Marie-Tooth disease type 2 2025-01-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005232918 SCV005877422 likely benign not provided 2024-10-16 criteria provided, single submitter clinical testing

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