ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.785+10C>T

gnomAD frequency: 0.00018  dbSNP: rs76241121
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Total submissions: 4
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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 RCV000218458 SCV000268796 benign not specified 2015-08-12 criteria provided, single submitter clinical testing c.785+10C>T in intron 08 of ATP6V1B1: This variant is not expected to have clini cal significance because it is not located within the conserved splice consensus sequence and has been identified in 0.8% (68/8644) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNPrs 76241121).
Counsyl RCV000670868 SCV000795780 likely benign Renal tubular acidosis with progressive nerve deafness 2017-11-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000917227 SCV001062499 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000917227 SCV001982546 likely benign not provided 2021-03-14 criteria provided, single submitter clinical testing

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