ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe) (rs149222801)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041757 SCV000065453 benign not specified 2012-05-15 criteria provided, single submitter clinical testing Ser4772Phe in Exon 65 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 1.1% (41/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs149222801).
Invitae RCV000894587 SCV001038580 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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