ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3531T>C (p.Gly1177=)

gnomAD frequency: 0.00057  dbSNP: rs149570469
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000928264 SCV000534221 likely benign not provided 2019-10-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000928264 SCV001073871 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000928264 SCV001146610 benign not provided 2018-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000928264 SCV004125621 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing USH2A: BP4, BP7
Genome-Nilou Lab RCV003449084 SCV004182333 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449083 SCV004182334 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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