ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.15105A>C (p.Thr5035=) (rs762610249)

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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 RCV000217869 SCV000271160 likely benign not specified 2015-04-18 criteria provided, single submitter clinical testing p.Thr5035Thr in exon 70 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/8654 East Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org).
Counsyl RCV000670403 SCV000795250 likely benign Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-11-02 criteria provided, single submitter clinical testing

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