ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.4543A>G (p.Thr1515Ala) (rs141671082)

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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 RCV000155438 SCV000205128 benign not specified 2013-11-13 criteria provided, single submitter clinical testing Thr1515Ala in Exon 21A of USH2A: This variant is not expected to have clinical s ignificance because it has been identified in 1.1% (48/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs141671082). In addition, the threonine (Th r) residue at position 1515 is poorly conserved across species with several mam mals (rat, mouse, kangaroo rat) having an alanine (Ala) at this position.
Invitae RCV000897633 SCV001041788 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000155438 SCV001160311 benign not specified 2019-03-12 criteria provided, single submitter clinical testing

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