ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.366C>T (p.Leu122=)

gnomAD frequency: 0.00002  dbSNP: rs769023747
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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 RCV001416529 SCV001618711 likely benign Charcot-Marie-Tooth disease type 2 2024-10-10 criteria provided, single submitter clinical testing

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