ClinVar Miner

Submissions for variant NM_020632.3(ATP6V0A4):c.977G>A (p.Trp326Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004598548 SCV005091958 pathogenic Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 2024-06-18 criteria provided, single submitter clinical testing ACMG Criteria: PVS1,PM2_SUP,PM3_SUP
Fulgent Genetics, Fulgent Genetics RCV004598548 SCV005666035 likely pathogenic Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 2024-01-10 criteria provided, single submitter clinical testing

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