ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.687C>A (p.Gly229=)

dbSNP: rs766740504
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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 RCV000616976 SCV000712307 likely benign not specified 2016-06-16 criteria provided, single submitter clinical testing p.Gly229Gly in exon 4 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. It has been identified in 2/66640 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs766740504).
Labcorp Genetics (formerly Invitae), Labcorp RCV001415742 SCV001617908 likely benign not provided 2024-01-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001415742 SCV004125630 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing USH2A: BP4, BP7
Genome-Nilou Lab RCV003451369 SCV004182958 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451368 SCV004182959 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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