ClinVar Miner

Submissions for variant NM_003680.4(YARS1):c.821-7C>T

gnomAD frequency: 0.00011  dbSNP: rs372082251
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001485040 SCV001689465 likely benign Charcot-Marie-Tooth disease dominant intermediate C 2023-09-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938868 SCV004749570 likely benign YARS1-related disorder 2019-06-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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