ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.72G>A (p.Thr24=)

gnomAD frequency: 0.00001  dbSNP: rs780609058
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV000999720 SCV001156507 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002236011 SCV002510276 likely benign Charcot-Marie-Tooth disease type 2 2024-11-13 criteria provided, single submitter clinical testing

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