ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.966T>C (p.Tyr322=)

gnomAD frequency: 0.00034  dbSNP: rs145859060
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861385 SCV001001685 likely benign Charcot-Marie-Tooth disease type 2 2025-01-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003489943 SCV004237799 likely benign not provided 2023-11-21 criteria provided, single submitter clinical testing

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