ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5739G>A (p.Glu1913=)

gnomAD frequency: 0.00006  dbSNP: rs41277216
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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 RCV000041865 SCV000065561 likely benign not specified 2010-06-17 criteria provided, single submitter clinical testing
Invitae RCV000940543 SCV001086407 likely benign not provided 2023-11-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450856 SCV004181773 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450855 SCV004181774 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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