ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8709C>T (p.Phe2903=) (rs397518040)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726267 SCV000343277 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041934 SCV000065630 likely benign not specified 2012-02-08 criteria provided, single submitter clinical testing Phe2903Phe in exon 44 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.

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