ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14928C>G (p.Gly4976=)

gnomAD frequency: 0.00001  dbSNP: rs397517995
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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 RCV000041773 SCV000065469 likely benign not specified 2011-10-31 criteria provided, single submitter clinical testing Gly4976Gly in exon 68 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 ne ar a splice junction.
Counsyl RCV000666937 SCV000791312 likely benign Usher syndrome type 2A; Retinitis pigmentosa 39 2017-05-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001243190 SCV001416330 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450804 SCV004182384 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450803 SCV004182395 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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