ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8265T>C (p.Leu2755=)

gnomAD frequency: 0.00001  dbSNP: rs727505274
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Total submissions: 4
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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 RCV000156801 SCV000206522 likely benign not specified 2014-10-02 criteria provided, single submitter clinical testing Leu2755Leu in exon 42 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 RCV000671451 SCV000796427 likely benign Usher syndrome type 2A; Retinitis pigmentosa 39 2017-12-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453202 SCV004182823 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453201 SCV004182824 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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