ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.1533T>C (p.Thr511=)

gnomAD frequency: 0.00008  dbSNP: rs782329243
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000602499 SCV000712654 likely benign not specified 2016-11-23 criteria provided, single submitter clinical testing p.Thr511Thr in exon 14 of ATP6V1B1: This variant is not expected to have clinica l significance because it does not alter an amino acid residue and is not locate d within the splice consensus sequence. It has been identified in 7/63224 Europe an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs782329243).
Labcorp Genetics (formerly Invitae), Labcorp RCV001410015 SCV001612056 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476353 SCV002795196 likely benign Renal tubular acidosis with progressive nerve deafness 2022-01-17 criteria provided, single submitter clinical testing

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