ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15369C>T (p.Val5123=)

gnomAD frequency: 0.00004  dbSNP: rs142939648
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001489290 SCV001693830 likely benign not provided 2023-12-21 criteria provided, single submitter clinical testing
GeneDx RCV001489290 SCV002072742 likely benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451759 SCV004182830 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451758 SCV004182841 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815533 SCV005069025 likely benign Retinal dystrophy 2014-01-01 no assertion criteria provided clinical testing

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