ClinVar Miner

Submissions for variant NM_001605.2(AARS1):c.2333A>C (p.Glu778Ala) (rs797044801)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000192254 SCV000239902 pathogenic Charcot-Marie-Tooth disease 2015-04-30 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000192254 SCV000929097 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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