ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6141G>A (p.Leu2047=) (rs727505165)

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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 RCV000156638 SCV000206359 likely benign not specified 2014-07-03 criteria provided, single submitter clinical testing Leu2047Leu in exon 31 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.
Counsyl RCV000664557 SCV000788541 likely benign Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-05-02 criteria provided, single submitter clinical testing

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