ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.*12G>A (rs77794859)

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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, Partners HealthCare Personalized Medicine RCV000037199 SCV000060856 benign not specified 2012-05-07 criteria provided, single submitter clinical testing *12G>A in Exon 14 of ATP6V1B1: This variant is not expected to have clinical sig nificance because it has been identified in 8.1% (301/3718) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //; dbSNP rs77794859).
Illumina Clinical Services Laboratory,Illumina RCV000356862 SCV000431652 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.
Counsyl RCV000356862 SCV000790094 benign Renal tubular acidosis with progressive nerve deafness 2017-03-06 criteria provided, single submitter clinical testing

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