ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.1249-15_1249-11del

dbSNP: rs886056273
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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 RCV000384726 SCV000431644 uncertain significance Renal tubular acidosis with progressive nerve deafness 2016-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002307487 SCV002600874 uncertain significance not specified 2022-10-04 criteria provided, single submitter clinical testing
Invitae RCV003669135 SCV004389449 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing

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