ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.481GAG[1] (p.Glu162del)

dbSNP: rs1572920649
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000786886 SCV000925785 uncertain significance Renal tubular acidosis with progressive nerve deafness 2018-10-31 no assertion criteria provided clinical testing

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