ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9723C>T (p.Tyr3241=) (rs6660707)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041959 SCV000065655 benign not specified 2012-04-27 criteria provided, single submitter clinical testing Tyr3241Tyr in exon 49 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, has been identified in 2% (73/3738) of African American chromosomes from a broad population by the NHLBI Exome sequencing proje ct (http://evs.gs.washington.edu/EVS/; dbSNP rs6660707).
Invitae RCV000972667 SCV001120390 benign not provided 2020-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000972667 SCV001754174 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273699 SCV001457068 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000041959 SCV001917237 benign not specified no assertion criteria provided clinical testing

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