ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13113A>G (p.Gln4371=)

gnomAD frequency: 0.00001  dbSNP: rs773670510
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001431104 SCV001633856 likely benign not provided 2024-10-21 criteria provided, single submitter clinical testing
GeneDx RCV001431104 SCV001813245 likely benign not provided 2020-08-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451734 SCV004181911 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451733 SCV004181912 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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