ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.368-6C>T

gnomAD frequency: 0.00016  dbSNP: rs200038589
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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 RCV000219993 SCV000269990 likely benign not specified 2015-06-16 criteria provided, single submitter clinical testing c.368-6C>T in intron 4 of ATP6V1B1: ThisThis variant is not expected to have cli nical significance because a C>T change at this position does not diverge from t he splice consensus sequence and is therefore unlikely to impact splicing. This variant has been identified in (9/65446) of European chromosomes by the Exome Ag gregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200038589).
Counsyl RCV000667185 SCV000791601 uncertain significance Renal tubular acidosis with progressive nerve deafness 2017-05-18 criteria provided, single submitter clinical testing
Invitae RCV000927772 SCV001073363 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000667185 SCV001459118 uncertain significance Renal tubular acidosis with progressive nerve deafness 2019-11-11 no assertion criteria provided clinical testing

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