ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6141G>A (p.Leu2047=)

gnomAD frequency: 0.00002  dbSNP: rs727505165
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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, Mass General Brigham 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
Invitae RCV001392873 SCV001594522 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453197 SCV004181704 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453196 SCV004181705 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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