ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) (rs142905621)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155034 SCV000204718 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Arg465His in Exon 14 of ATP6V1B1: This variant is not expected to have clinical significance because it has been identified in 0.8% (30/3738) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs142905621).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155034 SCV000226078 benign not specified 2015-01-22 criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490321 SCV000267215 uncertain significance Renal tubular acidosis with progressive nerve deafness 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000885591 SCV001029050 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000490321 SCV001297287 benign Renal tubular acidosis with progressive nerve deafness 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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