ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.2082G>A (p.Val694=)

dbSNP: rs1960037082
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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 RCV001395732 SCV001597447 likely benign Charcot-Marie-Tooth disease type 2 2024-10-15 criteria provided, single submitter clinical testing

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