ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2488G>A (p.Gly830Arg) (rs142751309)

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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 RCV000041281 SCV000064972 benign not specified 2012-05-15 criteria provided, single submitter clinical testing Gly830Arg in Exon 24 of USH1C: This variant is not expected to have clinical sig nificance because it has been identified in 1.3% (47/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs142751309).
Invitae RCV000969058 SCV001116549 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000969058 SCV001768051 likely benign not provided 2021-03-19 criteria provided, single submitter clinical testing

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