ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile)

gnomAD frequency: 0.16644  dbSNP: rs17720303
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Total submissions: 10
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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 RCV000037210 SCV000060867 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Thr30Ile in Exon 01 of ATP6V1B1: This variant is not expected to have clinical s ignificance because it has been identified in 17.0% (1190/7020) of European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs17720303).
PreventionGenetics, part of Exact Sciences RCV000037210 SCV000308006 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000037210 SCV000340158 benign not specified 2016-03-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000365413 SCV000431629 benign Renal tubular acidosis with progressive nerve deafness 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000037210 SCV000730649 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001523718 SCV001733486 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000365413 SCV001761691 benign Renal tubular acidosis with progressive nerve deafness 2021-07-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037210 SCV002051445 likely benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001523718 SCV005257008 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000365413 SCV001452517 benign Renal tubular acidosis with progressive nerve deafness 2020-09-16 no assertion criteria provided clinical testing

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