ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5367A>G (p.Leu1789=)

gnomAD frequency: 0.00009  dbSNP: rs138064171
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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 RCV000041857 SCV000065553 likely benign not specified 2016-06-09 criteria provided, single submitter clinical testing p.Leu1789Leu in exon 27 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, has been identified in 35/66708 European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs138064171) and is listed as benign in one publication (McGee 2010).
Invitae RCV000929837 SCV001075473 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450851 SCV004181818 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450850 SCV004181819 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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