ClinVar Miner

Submissions for variant NM_003680.4(YARS1):c.45C>T (p.Thr15=)

gnomAD frequency: 0.00002  dbSNP: rs1488727812
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001426045 SCV001628690 likely benign Charcot-Marie-Tooth disease dominant intermediate C 2023-09-05 criteria provided, single submitter clinical testing
GeneDx RCV003320836 SCV004025698 uncertain significance not provided 2023-02-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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