ClinVar Miner

Submissions for variant NM_032122.5(DTNBP1):c.874A>G (p.Arg292Gly)

gnomAD frequency: 0.02600  dbSNP: rs73369534
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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, Mass General Brigham Personalized Medicine RCV000222828 SCV000269043 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Arg292Gly in exon 10 of DTNBP1: This variant is not expected to have clinical si gnificance because it has been identified in 9.1% (400/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs73369534).
Invitae RCV000956366 SCV001103128 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000956366 SCV001883069 benign not provided 2019-02-04 criteria provided, single submitter clinical testing

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