ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.1284T>A (p.Ile428=)

gnomAD frequency: 0.00001  dbSNP: rs1210163050
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001066170 SCV001231172 likely benign Charcot-Marie-Tooth disease type 2 2025-01-29 criteria provided, single submitter clinical testing

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