ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.10344A>G (p.Glu3448=) (rs760725818)

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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 RCV000217243 SCV000271154 likely benign not specified 2016-03-20 criteria provided, single submitter clinical testing p.Glu3448Glu in exon 52 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 1/6512 South Asi an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs760725818).
Counsyl RCV000672719 SCV000797853 likely benign Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-02-13 criteria provided, single submitter clinical testing

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