ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.1236C>G (p.Val412=)

gnomAD frequency: 0.00050  dbSNP: rs147229014
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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 RCV000610510 SCV000710981 likely benign not specified 2016-12-22 criteria provided, single submitter clinical testing p.Val412Val in Exon 12 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 0.1% (13/10400 ) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs147229014).
Labcorp Genetics (formerly Invitae), Labcorp RCV000895900 SCV001039967 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498883 SCV002808910 likely benign Renal tubular acidosis with progressive nerve deafness 2022-04-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915745 SCV004730282 likely benign ATP6V1B1-related disorder 2020-12-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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