ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11549-5dup

dbSNP: rs34565443
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179586 SCV000231852 benign not specified 2014-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522561 SCV001732133 benign not provided 2024-12-18 criteria provided, single submitter clinical testing
GeneDx RCV001522561 SCV001941513 benign not provided 2019-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445613 SCV004173927 benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001826917 SCV004173928 benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826917 SCV002088328 benign Usher syndrome type 2A 2019-09-25 no assertion criteria provided clinical testing

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