ClinVar Miner

Submissions for variant NM_005548.3(KARS1):c.336T>G (p.Tyr112Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004555374 SCV005044347 pathogenic Autosomal recessive nonsyndromic hearing loss 89 2024-01-17 criteria provided, single submitter clinical testing ACMG Criteria: PVS1,PM2_SUP,PP4; Compound Heterozygote

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