ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3158-2A>G

dbSNP: rs878853404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV001002690 SCV001156370 pathogenic Usher syndrome type 2A 2019-02-01 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225664 SCV000282643 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing

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