ClinVar Miner

Submissions for variant NM_001605.3(AARS1):c.2054T>C (p.Val685Ala)

dbSNP: rs1555539904
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626810 SCV000747513 uncertain significance Clubfoot; Gait disturbance; Impaired vibration sensation in the lower limbs; Shuffling gait; Distal muscle weakness; EMG: neuropathic changes; Progressive distal muscular atrophy; Foot dorsiflexor weakness 2017-01-01 criteria provided, single submitter clinical testing

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