ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.33G>C (p.Gly11=)

dbSNP: rs199559744
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000310790 SCV000431628 uncertain significance Renal tubular acidosis with progressive nerve deafness 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001446613 SCV001649665 likely benign not provided 2024-01-05 criteria provided, single submitter clinical testing
GeneDx RCV001446613 SCV002756756 likely benign not provided 2020-09-14 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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