ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.336A>G (p.Glu112=)

dbSNP: rs759137116
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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 RCV001498312 SCV001703059 likely benign Charcot-Marie-Tooth disease type 2 2019-08-21 criteria provided, single submitter clinical testing

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