ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7626G>C (p.Leu2542=)

dbSNP: rs577063450
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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 RCV000825852 SCV000967336 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Leu2542Leu in exon 41 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 0.04% (6/16462) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs577063450).
Labcorp Genetics (formerly Invitae), Labcorp RCV000929869 SCV001075506 likely benign not provided 2023-08-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453752 SCV004183218 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001835983 SCV004183219 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835983 SCV002090850 likely benign Usher syndrome type 2A 2020-02-07 no assertion criteria provided clinical testing

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