ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) (rs141609561)

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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 RCV000155327 SCV000205013 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Asn1875Ser in Exon 28 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (12/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs141609561).
Invitae RCV000891558 SCV001035380 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000986533 SCV001135550 benign Usher syndrome, type 2A 2019-05-28 criteria provided, single submitter clinical testing

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