ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.893dup (p.Glu299fs)

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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 RCV003991234 SCV004808560 pathogenic Renal tubular acidosis with progressive nerve deafness 2024-02-08 criteria provided, single submitter clinical testing ACMG Criteria: PVS1,PM2_SUP,PM3_SUP,PP4

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