ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7476G>A (p.Ser2492=)

gnomAD frequency: 0.00007  dbSNP: rs777803742
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000928349 SCV001073959 likely benign not provided 2023-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000928349 SCV001781088 likely benign not provided 2018-10-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000928349 SCV004125609 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing USH2A: BP4, BP7
Genome-Nilou Lab RCV003454955 SCV004183249 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001271981 SCV004183250 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271981 SCV001453609 likely benign Usher syndrome type 2A 2020-05-01 no assertion criteria provided clinical testing

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