ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.2193G>A (p.Ser731=)

dbSNP: rs746349849
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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 RCV002236841 SCV002510434 likely benign Charcot-Marie-Tooth disease type 2 2025-01-23 criteria provided, single submitter clinical testing

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